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Delayed ability to sit

MedGen UID:
1368737
Concept ID:
C4476710
Finding
HPO: HP:0025336

Definition

A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed ability to sit

Conditions with this feature

X-linked intellectual disability-psychosis-macroorchidism syndrome
MedGen UID:
163232
Concept ID:
C0796222
Disease or Syndrome
The spectrum of MECP2-related phenotypes in females ranges from classic Rett syndrome to variant Rett syndrome with a broader clinical phenotype (either milder or more severe than classic Rett syndrome) to mild learning disabilities; the spectrum in males ranges from severe neonatal encephalopathy to pyramidal signs, parkinsonism, and macroorchidism (PPM-X) syndrome to severe syndromic/nonsyndromic intellectual disability. Females: Classic Rett syndrome, a progressive neurodevelopmental disorder primarily affecting girls, is characterized by apparently normal psychomotor development during the first six to 18 months of life, followed by a short period of developmental stagnation, then rapid regression in language and motor skills, followed by long-term stability. During the phase of rapid regression, repetitive, stereotypic hand movements replace purposeful hand use. Additional findings include fits of screaming and inconsolable crying, autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, seizures, and acquired microcephaly. Males: Severe neonatal-onset encephalopathy, the most common phenotype in affected males, is characterized by a relentless clinical course that follows a metabolic-degenerative type of pattern, abnormal tone, involuntary movements, severe seizures, and breathing abnormalities. Death often occurs before age two years.
Muscular dystrophy-dystroglycanopathy type B6
MedGen UID:
373284
Concept ID:
C1837229
Disease or Syndrome
MDDGB6 is an autosomal recessive congenital muscular dystrophy with impaired intellectual development and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
X-linked intellectual disability-cerebellar hypoplasia syndrome
MedGen UID:
336920
Concept ID:
C1845366
Disease or Syndrome
X-linked intellectual deficit-cerebellar hypoplasia, also known as OPHN1 syndrome, is a rare syndromic form of cerebellar dysgenesis characterized by moderate to severe intellectual deficit and cerebellar abnormalities.
Syndromic X-linked intellectual disability Lubs type
MedGen UID:
337496
Concept ID:
C1846058
Disease or Syndrome
MECP2 duplication syndrome is a severe neurodevelopmental disorder characterized by early-onset hypotonia, feeding difficulty, gastrointestinal manifestations including gastroesophageal reflux and constipation, delayed psychomotor development leading to severe intellectual disability, poor speech development, progressive spasticity, recurrent respiratory infections (in ~75% of affected individuals), and seizures (in ~50%). MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and a range of findings from mild intellectual disability to a phenotype similar to that seen in males. In addition to the core features, autistic behaviors, nonspecific neuroradiologic findings on brain MRI, mottled skin, and urogenital anomalies have been observed in several affected boys.
Intellectual disability, autosomal dominant 1
MedGen UID:
409857
Concept ID:
C1969562
Mental or Behavioral Dysfunction
MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%).
Syndromic X-linked intellectual disability Najm type
MedGen UID:
437070
Concept ID:
C2677903
Disease or Syndrome
CASK disorders include a spectrum of phenotypes in both females and males. Two main types of clinical presentation are seen: Microcephaly with pontine and cerebellar hypoplasia (MICPCH), generally associated with pathogenic loss-of-function variants in CASK. X-linked intellectual disability (XLID) with or without nystagmus, generally associated with hypomorphic CASK pathogenic variants. MICPCH is typically seen in females with moderate-to-severe intellectual disability, progressive microcephaly with or without ophthalmologic anomalies, and sensorineural hearing loss. Most are able to sit independently; 20%-25% attain the ability to walk; language is nearly absent in most. Neurologic features may include axial hypotonia, hypertonia/spasticity of the extremities, and dystonia or other movement disorders. Nearly 40% have seizures by age ten years. Behaviors may include sleep disturbances, hand stereotypies, and self biting. MICPCH in males may occur with or without severe epileptic encephalopathy in addition to severe-to-profound developmental delay. When seizures are present they occur early and may be intractable. In individuals and families with milder (i.e., hypomorphic) pathogenic variants, the clinical phenotype is usually that of XLID with or without nystagmus and additional clinical features. Males have mild-to-severe intellectual disability, with or without nystagmus and other ocular features. Females typically have normal intelligence with some displaying mild-to-severe intellectual disability with or without ocular features.
Intellectual disability, autosomal dominant 20
MedGen UID:
462050
Concept ID:
C3150700
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language (NEDHSIL) is characterized by global developmental delay with hypotonia, poor motor development with limited walking, impaired intellectual development with poor or absent speech, and behavioral abnormalities. Almost all affected individuals demonstrate repetitive stereotypic hand movements that can be categorized as hyperkinetic and resembling those of Rett syndrome (RTT; 312750). About 80% of patients develop various types of seizures that may be refractory to treatment. Additional features may include dysmorphic facial features, particularly dysplastic ears, poor eye contact, episodic hyperventilation, tendency to infection, and abnormalities on brain imaging, such as enlarged ventricles, thin corpus callosum, and delayed myelination (summary by Vrecar et al., 2017, Paciorkowski et al., 2013).
Rett syndrome, congenital variant
MedGen UID:
462055
Concept ID:
C3150705
Disease or Syndrome
The congenital variant of Rett syndrome is a severe neurodevelopmental disorder with features of classic Rett syndrome (RTT; 312750), but earlier onset in the first months of life. Classic Rett syndrome shows later onset and is caused by mutation in the MECP2 gene (300005).
N-acetylaspartate deficiency
MedGen UID:
481346
Concept ID:
C3279716
Disease or Syndrome
Severe intellectual disability-progressive spastic diplegia syndrome
MedGen UID:
767363
Concept ID:
C3554449
Disease or Syndrome
CTNNB1 neurodevelopmental disorder (CTNNB1-NDD) is characterized in all individuals by mild-to-profound cognitive impairment and in up to 39% of reported individuals by exudative vitreoretinopathy, an ophthalmologic finding consistent with familial exudative vitreoretinopathy (FEVR). Other common findings include truncal hypotonia, peripheral spasticity, dystonia, behavior problems, microcephaly, and refractive errors and strabismus. Less common features include intrauterine growth restriction, feeding difficulties, and scoliosis.
Meckel syndrome, type 1
MedGen UID:
811346
Concept ID:
C3714506
Disease or Syndrome
Meckel syndrome, also known as Meckel-Gruber syndrome, is a severe pleiotropic autosomal recessive developmental disorder caused by dysfunction of primary cilia during early embryogenesis. There is extensive clinical variability and controversy as to the minimum diagnostic criteria. Early reports, including that of Opitz and Howe (1969) and Wright et al. (1994), stated that the classic triad of Meckel syndrome comprises (1) cystic renal disease; (2) a central nervous system malformation, most commonly occipital encephalocele; and (3) polydactyly, most often postaxial. However, based on a study of 67 patients, Salonen (1984) concluded that the minimum diagnostic criteria are (1) cystic renal disease; (2) CNS malformation, and (3) hepatic abnormalities, including portal fibrosis or ductal proliferation. In a review of Meckel syndrome, Logan et al. (2011) stated that the classic triad first described by Meckel (1822) included occipital encephalocele, cystic kidneys, and fibrotic changes to the liver. Genetic Heterogeneity of Meckel Syndrome See also MKS2 (603194), caused by mutation in the TMEM216 gene (613277) on chromosome 11q12; MKS3 (607361), caused by mutation in the TMEM67 gene (609884) on chromosome 8q; MKS4 (611134), caused by mutation in the CEP290 gene (610142) on chromosome 12q; MKS5 (611561), caused by mutation in the RPGRIP1L gene (610937) on chromosome 16q12; MKS6 (612284), caused by mutation in the CC2D2A gene (612013) on chromosome 4p15; MKS7 (267010), caused by mutation in the NPHP3 (608002) gene on chromosome 3q22; MKS8 (613885), caused by mutation in the TCTN2 gene (613846) on chromosome 12q24; MKS9 (614209), caused by mutation in the B9D1 gene (614144) on chromosome 17p11; MKS10 (614175), caused by mutation in the B9D2 gene (611951) on chromosome 19q13; MKS11 (615397), caused by mutation in the TMEM231 gene (614949) on chromosome 16q23; MKS12 (616258), caused by mutation in the KIF14 gene (611279) on chromosome 1q32; MKS13 (617562), caused by mutation in the TMEM107 gene (616183) on chromosome 17p13; and MKS14 (619879), caused by mutation in the TXNDC15 gene (617778) on chromosome 5q31.
X-linked intellectual disability, Cantagrel type
MedGen UID:
813060
Concept ID:
C3806730
Disease or Syndrome
X-linked intellectual developmental disorder-98 (XLID98) is a neurodevelopmental disorder characterized by delayed psychomotor development, poor speech, behavioral abnormalities, poor overall growth, dysmorphic facial features, and often early-onset seizures. Some carrier females are unaffected, whereas other females with mutations are affected; males tend to be more severely affected than females. It is believed that the phenotypic variability and disease manifestations in female carriers results from skewed X-inactivation or cellular mosaicism (summary by de Lange et al., 2016).
Intellectual disability, autosomal recessive 42
MedGen UID:
862780
Concept ID:
C4014343
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities (NEDDSBA) is an autosomal recessive neurodevelopmental disorder characterized by severely delayed global development, with hypotonia, impaired intellectual development, and poor or absent speech. Most patients have spasticity with limb hypertonia and brisk tendon reflexes. Additional features include nonspecific dysmorphic facial features, structural brain abnormalities, and cortical visual impairment (summary by Bosch et al., 2015). Novarino et al. (2014) labeled the disorder 'spastic paraplegia-67' (SPG67). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome
MedGen UID:
862856
Concept ID:
C4014419
Disease or Syndrome
The main features of Xia-Gibbs syndrome (XGS), present in a majority of affected individuals, include delayed motor milestones, speech delay with severely limited or absent speech, moderate-to-severe cognitive impairment, hypotonia, structural brain anomalies, and nonspecific dysmorphic features. Other features may include sleep apnea, movement disorders (ataxia, tremors, and bradykinesias) that often become apparent in childhood or adolescence, short stature, seizures, eye anomalies, behavioral concerns, autism spectrum disorder, scoliosis, and laryngomalacia.
Developmental and epileptic encephalopathy, 27
MedGen UID:
863753
Concept ID:
C4015316
Disease or Syndrome
GRIN2B-related neurodevelopmental disorder is characterized by mild to profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Muscle tone abnormalities (spasticity and/or hypotonia, occasionally associated with feeding difficulties), as well as epilepsy and autism spectrum disorder (ASD) / behavioral issues, are common. Other infantile- or childhood-onset findings include microcephaly; dystonic, dyskinetic, or choreiform movement disorder; and/or cortical visual impairment. Brain MRI reveals a malformation of cortical development in a minority of affected individuals. To date, fewer than 100 individuals with GRIN2B-related neurodevelopmental disorder have been reported.
Al-Raqad syndrome
MedGen UID:
897610
Concept ID:
C4085595
Disease or Syndrome
SLC39A8-CDG
MedGen UID:
899837
Concept ID:
C4225234
Disease or Syndrome
Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. Serum transferrin analysis shows a CDG type II pattern (summary by Boycott et al., 2015 and Park et al., 2015). For a discussion of genetic heterogeneity of CDG type II, see CDG2A (212066).
Congenital myasthenic syndrome 3A
MedGen UID:
898378
Concept ID:
C4225372
Disease or Syndrome
Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the AChR channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; acetylcholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Congenital myasthenic syndrome 2A
MedGen UID:
908185
Concept ID:
C4225374
Disease or Syndrome
Slow-channel congenital myasthenic syndrome (SCCMS) is a disorder of the postsynaptic neuromuscular junction (NMJ) characterized by early-onset progressive muscle weakness. The disorder results from kinetic abnormalities of the acetylcholine receptor channel, specifically from prolonged opening and activity of the channel, which causes prolonged synaptic currents resulting in a depolarization block. This is associated with calcium overload, which may contribute to subsequent degeneration of the endplate and postsynaptic membrane. Treatment with quinine, quinidine, or fluoxetine may be helpful; cholinesterase inhibitors and amifampridine should be avoided (summary by Engel et al., 2015). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
MedGen UID:
903767
Concept ID:
C4225396
Disease or Syndrome
Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019).
Developmental and epileptic encephalopathy, 48
MedGen UID:
934604
Concept ID:
C4310637
Disease or Syndrome
Developmental and epileptic encephalopathy-48 (DEE48) is a severe autosomal recessive neurologic disorder characterized by global developmental delay with intellectual disability and absent speech; poor, if any, motor development; and onset of seizures usually in the first year of life, although later onset has been reported. Affected individuals have poor eye contact and may develop microcephaly and abnormal movements (summary by Assoum et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
ZTTK syndrome
MedGen UID:
934663
Concept ID:
C4310696
Disease or Syndrome
ZTTK syndrome (ZTTKS) is a severe multisystem developmental disorder characterized by delayed psychomotor development and intellectual disability. Affected individuals have characteristic dysmorphic facial features, hypotonia, poor feeding, poor overall growth, and eye or visual abnormalities. Most patients also have musculoskeletal abnormalities, and some have congenital defects of the heart and urogenital system. Brain imaging usually shows developmental abnormalities such as gyral changes, cortical and/or cerebellar atrophy, and thin corpus callosum (summary by Kim et al., 2016).
Intellectual disability, autosomal dominant 43
MedGen UID:
934738
Concept ID:
C4310771
Mental or Behavioral Dysfunction
HIVEP2-related intellectual disability is a neurological disorder characterized by moderate to severe developmental delay and intellectual disability and mild physical abnormalities (dysmorphic features). Early symptoms of the condition include weak muscle tone (hypotonia) and delayed development of motor skills, such as sitting, standing, and walking. After learning to walk, many affected individuals continue to have difficulty with this activity; their walking style (gait) is often unbalanced and wide-based. Speech is also delayed, and some people with this condition never learn to talk. Most people with HIVEP2-related intellectual disability also have unusual physical features, such as widely spaced eyes (hypertelorism), a broad nasal bridge, or fingers with tapered ends, although there is no characteristic pattern of such features among affected individuals. Many people with the condition exhibit neurodevelopmental disorders, such as hyperactivity, attention deficit disorder, aggression, anxiety, and autism spectrum disorder, which is a group of developmental disorders characterized by impaired communication and social interaction.\n\nOther features of HIVEP2-related intellectual disability include mild abnormalities in the structure of the brain and an abnormally small brain and head size (microcephaly). Less common health problems include seizures; recurrent ear infections; and eye disorders, such as eyes that do not look in the same direction (strabismus), "lazy eye" (amblyopia), and farsightedness (hyperopia). Some people with HIVEP2-related intellectual disability have gastrointestinal problems, which can include backflow of acidic stomach contents into the esophagus (gastroesophageal reflux) and constipation.
Developmental and epileptic encephalopathy, 51
MedGen UID:
1372686
Concept ID:
C4479208
Disease or Syndrome
Developmental and epileptic encephalopathy-51 (DEE51) is an autosomal recessive severe neurodevelopmental disorder characterized by onset of intractable seizures and hypotonia in the first days or weeks of life. Affected individuals have severely delayed psychomotor development and may show abnormal movements. Brain imaging shows nonspecific abnormalities, such as cerebral atrophy, cerebellar atrophy, and delayed myelination. Laboratory studies showed increased lactate, suggesting mitochondrial dysfunction (summary by Ait-El-Mkadem et al., 2017). For a discussion of genetic heterogeneity of DEE, see 308350.
Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder
MedGen UID:
1385307
Concept ID:
C4479246
Disease or Syndrome
CDK13-related disorder, reported in 43 individuals to date, is characterized in all individuals by developmental delay / intellectual disability (DD/ID); nearly all individuals older than age one year display impaired verbal language skills (either absent or restricted speech). Other common findings are recognizable facial features in some individuals, behavioral problems (autism spectrum disorder or autistic traits/stereotypies, attention-deficit/hyperactivity disorder), feeding difficulties in infancy, structural cardiac defects, and seizures.
Joubert syndrome 1
MedGen UID:
1644883
Concept ID:
C4551568
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
Gaze palsy, familial horizontal, with progressive scoliosis 1
MedGen UID:
1647423
Concept ID:
C4551964
Disease or Syndrome
HGPPS is an autosomal recessive neurologic disorder characterized by eye movement abnormalities apparent from birth and childhood-onset progressive scoliosis. These features are associated with a developmental malformation of the brainstem including hypoplasia of the pons and cerebellar peduncles and defective decussation of certain neuronal systems. Cognitive function is normal (summary by Bosley et al., 2005). Genetic Heterogeneity of Familial Horizontal Gaze Palsy With Progressive Scoliosis See also HGPPS2 (617542), caused by mutation in the DCC gene (120470) on chromosome 18q21.
Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
MedGen UID:
1646665
Concept ID:
C4693325
Disease or Syndrome
GRIN1-related neurodevelopmental disorder (GRIN1-NDD) is characterized by mild-to-profound developmental delay / intellectual disability (DD/ID) in all affected individuals. Other common manifestations are epilepsy, muscular hypotonia, movement disorders, spasticity, feeding difficulties, and behavior problems. A subset of individuals show a malformation of cortical development consisting of extensive and diffuse bilateral polymicrogyria. To date, 72 individuals with GRIN1-NDD have been reported.
Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome
MedGen UID:
1647427
Concept ID:
C4693578
Disease or Syndrome
An autosomal dominant condition caused by mutations(s) in the CTBP1 gene, encoding C-terminal-binding protein 1. It is characterized by hypotonia, ataxia, developmental delay, and tooth enamel defects.
Parkinsonism-dystonia, infantile, 2
MedGen UID:
1648382
Concept ID:
C4747991
Disease or Syndrome
Infantile-onset parkinsonism-dystonia-2 (PKDYS2) is an autosomal recessive complex infantile-onset neurologic disorder characterized by abnormal movements, including parkinsonism, dystonia, and poor fine motor skills, as well as autonomic dysfunction, including abnormal sweating, cold extremities, and poor sleep. Some patients have variable degrees of developmental delay. Features of the disorder are consistent with decreased levels of monoamine neurotransmitters, although levels of these in the spinal fluid are normal (summary by Rilstone et al., 2013). For a discussion of genetic heterogeneity of PKDYS, see 613135.
Spondyloepimetaphyseal dysplasia, Krakow type
MedGen UID:
1648323
Concept ID:
C4748455
Disease or Syndrome
Krakow-type spondyloepimetaphyseal dysplasia is characterized by severe skeletal dysplasia, severe immunodeficiency, and developmental delay (Csukasi et al., 2018).
Intellectual developmental disorder, autosomal recessive 67
MedGen UID:
1648350
Concept ID:
C4749019
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia 20
MedGen UID:
1684324
Concept ID:
C5190595
Disease or Syndrome
Autosomal recessive spinocerebellar ataxia-20 is a neurodevelopmental disorder characterized by severely delayed psychomotor development with poor or absent speech, wide-based or absent gait, coarse facies, and cerebellar atrophy (summary by Thomas et al., 2014).
Intellectual developmental disorder, X-linked 108
MedGen UID:
1680544
Concept ID:
C5193009
Disease or Syndrome
X-linked intellectual developmental disorder-108 (MRX108) is characterized by early hypotonia, global developmental delay, and moderately to severely impaired intellectual development. Brisk tendon reflexes, variable facial dysmorphism, and fifth finger clinodactyly may be present (Khayat et al., 2019).
Myasthenic syndrome, congenital, 25, presynaptic
MedGen UID:
1683288
Concept ID:
C5193027
Disease or Syndrome
Congenital myasthenic syndrome-25 (CMS25) is an autosomal recessive neuromuscular disorder characterized by hypotonia and generalized muscle weakness apparent from birth. Affected individuals have feeding difficulties and delayed motor development, usually never achieving independent ambulation. Additional variable features include eye movement abnormalities, joint contractures, and rigid spine. Pyridostigmine treatment may be partially effective (summary by Shen et al., 2017). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Lissencephaly 9 with complex brainstem malformation
MedGen UID:
1681109
Concept ID:
C5193029
Disease or Syndrome
Lissencephaly-9 with complex brainstem malformation (LIS9) is an autosomal dominant neurologic disorder characterized by global developmental delay apparent since infancy, impaired intellectual development with poor or absent speech, and sometimes abnormal or involuntary movements associated with abnormal brain imaging that typically shows pachygyria, lissencephaly, and malformation of the brainstem consistent with a neuronal migration defect (summary by Dobyns et al., 2018). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome
MedGen UID:
1675672
Concept ID:
C5193040
Disease or Syndrome
Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome is an autosomal recessive disorder with a highly variable phenotype. Although all patients have polymicrogyria and other variable structural brain anomalies on imaging, only some show developmental delay and/or seizures. Similarly, only some patients have connective tissue defects that particularly affect the vascular system and can result in early death (summary by Vandervore et al., 2017).
Developmental and epileptic encephalopathy, 72
MedGen UID:
1681879
Concept ID:
C5193063
Disease or Syndrome
Developmental and epileptic encephalopathy-72 (DEE72) is neurologic disorder characterized by the onset of infantile spasms around 5 months of age. The seizures tend to be refractory to treatment. EEG may show hypsarrhythmia, consistent with a clinical diagnosis of West syndrome. Affected individuals show severely delayed psychomotor development with impaired or absent walking and language skills. Additional more variable features include hyperkinetic movements and cortical visual impairment (summary by Sega et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression
MedGen UID:
1681269
Concept ID:
C5193083
Disease or Syndrome
Recurrent metabolic crises with variable encephalomyopathic features and neurologic regression (MECREN) is an autosomal recessive metabolic disorder with a highly variable phenotype. Most affected individuals present in the first years of life with episodic lactic acidosis associated with illness or stress, resulting in transient or permanent neurologic dysfunction. Some patients may recover, whereas others show subsequent variable developmental regression of motor and cognitive skills. Other features may include dystonia, hypotonia with inability to sit or walk, seizures, and abnormal signals in the basal ganglia. There is significant phenotypic heterogeneity, even among patients with the same mutation (summary by Almannai et al., 2018).
Neurodevelopmental disorder with impaired speech and hyperkinetic movements
MedGen UID:
1681181
Concept ID:
C5193088
Disease or Syndrome
Neurodevelopmental disorder with impaired speech and hyperkinetic movements (NEDISHM) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Most patients have mildly delayed walking, speech and language delay, and a hyperkinetic movement disorder with dystonia, tremor, ataxia, or chorea. Some may develop seizures that tend to abate (summary by Khan et al., 2019).
Neurodevelopmental disorder with visual defects and brain anomalies
MedGen UID:
1684774
Concept ID:
C5231404
Disease or Syndrome
Neurodevelopmental disorder with visual defects and brain anomalies (NEDVIBA) is characterized by global developmental delay with impaired intellectual development and speech delay, variable visual defects, including retinitis pigmentosa and optic atrophy, hypotonia or hypertonia, and variable structural brain abnormalities. Other nonspecific features may be found (summary by Okur et al., 2019).
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities
MedGen UID:
1684818
Concept ID:
C5231423
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Additional features may include feeding difficulties, dysmorphic features, and visual defects. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. The severity of the disorder is highly variable; initial evidence suggests that the severity may depend on the type of mutation (summary by Haijes et al., 2019).
Pontocerebellar hypoplasia, type 13
MedGen UID:
1684708
Concept ID:
C5231425
Disease or Syndrome
Pontocerebellar hypoplasia type 13 (PCH13) is an autosomal recessive disorder characterized by global developmental delay, impaired intellectual development with absent speech, microcephaly, and progressive atrophy of the cerebellar vermis and brainstem. Additional features, including seizures and visual impairment, are variable (summary by Uwineza et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (607596).
Neurodevelopmental disorder with absent language and variable seizures
MedGen UID:
1684803
Concept ID:
C5231469
Disease or Syndrome
Spastic paraplegia 82, autosomal recessive
MedGen UID:
1710411
Concept ID:
C5394037
Disease or Syndrome
Autosomal recessive spastic paraplegia-82 (SPG82) is a progressive neurologic disorder characterized by global developmental delay apparent from infancy, significant motor impairment, and progressive spasticity mainly affecting the lower limbs. Some patients never achieve walking, whereas others lose the ability to walk or walk with an unsteady gait. Additional features include variably impaired intellectual development with language difficulties, ocular anomalies, such as nystagmus and visual impairment, and seizures. Brain imaging shows progressive cerebral and cerebellar atrophy, as well as white matter hyperintensities. Based on the additional abnormalities, the disorder can be classified as a type of complicated SPG (summary by Vaz et al., 2019). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Developmental and epileptic encephalopathy, 84
MedGen UID:
1720141
Concept ID:
C5394081
Disease or Syndrome
Developmental and epileptic encephalopathy-84 (DEE84) is an autosomal recessive neurologic disorder characterized by onset of refractory seizures in the first months or years of life. Affected individuals have severely impaired global development with impaired intellectual development, absent speech, and inability to walk. Other features include axial hypotonia, peripheral spasticity, feeding difficulties that sometimes necessitate tube feeding, and mild dysmorphic facial features. Brain imaging may show nonspecific findings such as cerebral/cerebellar atrophy and/or hypomyelination. The severity of the disorder is variable (summary by Hengel et al., 2020). For a discussion of genetic heterogeneity of DEE, see 308350.
Intellectual developmental disorder, autosomal dominant 63, with macrocephaly
MedGen UID:
1716581
Concept ID:
C5394205
Disease or Syndrome
Congenital disorder of glycosylation, type iit
MedGen UID:
1709627
Concept ID:
C5394387
Disease or Syndrome
Congenital disorder of glycosylation type IIt (CDG2t) is an autosomal recessive multisystemic metabolic disorder characterized by global developmental delay, poor overall growth, severely impaired intellectual development with absent language, and behavioral abnormalities. Most patients develop early-onset seizures; brain imaging tends to show white matter abnormalities. Variable dysmorphic features, including long face, almond-shaped eyes, protruding maxilla, and short philtrum, are also present. The disorder, which is associated with low levels of HDL cholesterol, results from defective posttranslational O-linked glycosylation of certain plasma lipids and proteins (summary by Zilmer et al., 2020). For an overview of congenital disorders of glycosylation, see CDG1A (212065) and CDG2A (212066).
Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities
MedGen UID:
1731507
Concept ID:
C5436783
Disease or Syndrome
Neurodevelopmental disorder with microcephaly, language delay, and gait abnormalities (NEDMILG) is an autosomal recessive disorder characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. More variable features include hypotonia, early-onset seizures, and a peripheral demyelinating or axonal peripheral sensorimotor neuropathy. The disease follows a neurodegenerative course in many patients; clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020).
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities
MedGen UID:
1764121
Concept ID:
C5436788
Disease or Syndrome
Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities (NEDMILEG) is characterized by global developmental delay apparent in infancy. Affected individuals have delayed walking with variable gait abnormalities, including ataxia and spasticity, impaired intellectual development with poor or absent speech and language, and progressive microcephaly. Dysmorphic facial features may also be observed. Most patients have early-onset seizures; some may develop a demyelinating peripheral neuropathy. The clinical features suggest involvement of both the central and peripheral nervous systems (Manole et al., 2020).
Ritscher-Schinzel syndrome 3
MedGen UID:
1744611
Concept ID:
C5436883
Disease or Syndrome
Ritscher-Schinzel syndrome-3 (RTSC3) is characterized by craniocerebellocardiac anomalies and severe postnatal growth restriction, as well as complicated skeletal malformations, including vertebral body hypoossification, sternal aplasia, and chondrodysplasia punctata. Other features include developmental delay, ocular anomalies, periventricular nodular heterotopia, and proteinuria (Kato et al., 2020). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210).
Martsolf syndrome 1
MedGen UID:
1778114
Concept ID:
C5542298
Disease or Syndrome
RAB18 deficiency is the molecular deficit underlying both Warburg micro syndrome (characterized by eye, nervous system, and endocrine abnormalities) and Martsolf syndrome (characterized by similar – but milder – findings). To date Warburg micro syndrome comprises >96% of reported individuals with genetically defined RAB18 deficiency. The hallmark ophthalmologic findings are bilateral congenital cataracts, usually accompanied by microphthalmia, microcornea (diameter <10), and small atonic pupils. Poor vision despite early cataract surgery likely results from progressive optic atrophy and cortical visual impairment. Individuals with Warburg micro syndrome have severe to profound intellectual disability (ID); those with Martsolf syndrome have mild to moderate ID. Some individuals with RAB18 deficiency also have epilepsy. In Warburg micro syndrome, a progressive ascending spastic paraplegia typically begins with spastic diplegia and contractures during the first year, followed by upper-limb involvement leading to spastic quadriplegia after about age five years, often eventually causing breathing difficulties. In Martsolf syndrome infantile hypotonia is followed primarily by slowly progressive lower-limb spasticity. Hypogonadism – when present – manifests in both syndromes, in males as micropenis and/or cryptorchidism and in females as hypoplastic labia minora, clitoral hypoplasia, and small introitus.
Mitochondrial complex 2 deficiency, nuclear type 4
MedGen UID:
1782861
Concept ID:
C5543176
Disease or Syndrome
Mitochondrial complex II deficiency nuclear type 4 (MC2DN4) is a severe autosomal recessive disorder characterized by early-onset progressive neurodegeneration with leukoencephalopathy. Acute episodes of neurodegeneration are often triggered by catabolic stress such as infection or fasting.
Kohlschutter-Tonz syndrome-like
MedGen UID:
1781649
Concept ID:
C5543202
Disease or Syndrome
Den Hoed-de Boer-Voisin syndrome (DHDBV) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. The phenotype is reminiscent of Kohlschutter-Tonz syndrome (KTZS; 226750). More variable features of DHDBV include visual defects, behavioral abnormalities, and nonspecific involvement of other organ systems (summary by den Hoed et al., 2021).
Neurodevelopmental disorder with or without autism or seizures
MedGen UID:
1784023
Concept ID:
C5543225
Disease or Syndrome
CUL3-related neurodevelopmental disorder is a condition that affects neurological and physical development. Children with CUL3-related neurodevelopmental disorder may have intellectual disability or specific learning disorders. They may also experience delayed development of speech and motor skills, such as sitting and walking. Some individuals with this condition may have autism spectrum disorder, a developmental condition that affects communication and social skills. \n\nMovement abnormalities can also occur in people with CUL3-related neurodevelopmental disorder. Affected individuals may have weak muscle tone (hypotonia) in childhood. In adulthood, they may develop involuntary muscle tensing (dystonia), rhythmic shaking (tremor), or other uncontrolled movements (spasms). \n\nPeople with CUL3-related neurodevelopmental disorder can have distinctive facial features, including a long, triangular-shaped face; a large forehead; a large, rounded nose; small ears; deep-set eyes; or a pointed chin. Some affected individuals have a larger than normal head (macrocephaly). \n\nMany people with CUL3-related neurodevelopmental disorder have hand and foot abnormalities. Hand abnormalities can include small pinky (fifth) fingers that curve inward (clinodactyly), narrow thumbs, underdevelopment of the muscle at the base of the thumb (thenar hypoplasia), or a single crease across the palm of the hand. Foot abnormalities can include high arches of the feet (pes cavus); bunions; fusion of the skin between some toes (cutaneous syndactyly); or joint deformities (contractures) in the ankles, feet, or toes. A few individuals with CUL3-related neurodevelopmental disorder have an abnormally curved lower back (lordosis) or a spine that curves to the side (scoliosis). \n\nSome affected infants have a backflow of stomach acids into the esophagus (gastroesophageal reflux disease or GERD), which tends to go away after childhood. Rarely, recurrent seizures (epilepsy), congenital heart abnormalities, or genitourinary abnormalities occur in people with CUL3-related neurodevelopmental disorder. 
Neurodevelopmental disorder with cerebral atrophy and variable facial dysmorphism
MedGen UID:
1786662
Concept ID:
C5543228
Disease or Syndrome
Neurodevelopmental disorder with cerebral atrophy and facial dysmorphism (NEDCAFD) is an autosomal recessive disorder characterized by global developmental delay apparent from birth. Affected individuals have hypotonia with inability to walk and severely impaired intellectual development with absent language. Most patients have variable dysmorphic facial features including prominent eyes, protruding and low-set ears, and thin upper lip. Brain imaging shows cerebral atrophy, corpus callosum hypoplasia, and a simplified gyral pattern (summary by Rasheed et al., 2021).
Leukodystrophy, hypomyelinating, 21
MedGen UID:
1778269
Concept ID:
C5543334
Disease or Syndrome
Hypomyelinating leukodystrophy-21 (HLD21) is an autosomal recessive neurodegenerative disorder characterized by global developmental delay apparent from infancy with loss of motor, speech, and cognitive milestones in the first decades of life. Affected individuals show cerebellar and pyramidal signs, including nystagmus, ataxia, dystonia, and spasticity, resulting in the loss of ambulation. Other more variable features include feeding difficulties, poor overall growth with microcephaly, optic atrophy, and seizures. Brain imaging shows diffuse hypomyelination of the white matter and atrophy of the cerebellum and corpus callosum. The disorder is progressive and may lead to premature death (summary by Dorboz et al., 2018). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
Leukodystrophy, hypomyelinating, 22
MedGen UID:
1787833
Concept ID:
C5543406
Disease or Syndrome
Hypomyelinating leukodystrophy-22 (HLD22) is a neurologic disorder characterized by global developmental delay with mildly impaired intellectual development and marked motor impairment with limited or no ability to walk and dysarthria. Affected individuals have limb spasticity with pyramidal signs, as well as nystagmus, hypermetropia, and astigmatism. Brain imaging shows hypomyelination and a delay in myelination, although serial imaging shows some progress in both the central and peripheral white matter regions (Riedhammer et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
Dyskinesia with orofacial involvement, autosomal dominant
MedGen UID:
1790407
Concept ID:
C5551343
Disease or Syndrome
ADCY5 dyskinesia is a hyperkinetic movement disorder (more prominent in the face and arms than the legs) characterized by infantile to late-adolescent onset of chorea, athetosis, dystonia, myoclonus, or a combination of these. To date, affected individuals have had overlapping (but not identical) manifestations with wide-ranging severity. The facial movements are typically periorbital and perioral. The dyskinesia is prone to episodic or paroxysmal exacerbation lasting minutes to hours, and may occur during sleep. Precipitating factors in some persons have included emotional stress, intercurrent illness, sneezing, or caffeine; in others, no precipitating factors have been identified. In some children, severe infantile axial hypotonia results in gross motor delays accompanied by chorea, sometimes with language delays. The overall tendency is for the abnormal movements to stabilize in early middle age, at which point they may improve in some individuals; less commonly, the abnormal movements are slowly progressive, increasing in severity and frequency.
Focal segmental glomerulosclerosis and neurodevelopmental syndrome
MedGen UID:
1794148
Concept ID:
C5561938
Disease or Syndrome
Focal segmental glomerulosclerosis and neurodevelopmental syndrome (FSGSNEDS) is characterized by global developmental delay and renal dysfunction manifest as proteinuria and nephrotic syndrome apparent from infancy or early childhood. Some patients present with renal disease, whereas others present with developmental delay and develop renal disease later in childhood. Renal biopsy shows focal segmental glomerulosclerosis (FSGS), but the course of the disease is variable: some patients have transient proteinuria and others require renal transplant. Neurodevelopmental features are also variable, with some patients having only mildly impaired intellectual development, and others having a severe developmental disorder associated with early-onset refractory seizures or epileptic encephalopathy. Additional features, including feeding difficulties, poor overall growth, and nonspecific dysmorphic facial features, are commonly observed (summary by Assoum et al., 2018 and Weng et al., 2021).
Ritscher-Schinzel syndrome 4
MedGen UID:
1794149
Concept ID:
C5561939
Disease or Syndrome
Ritscher-Schinzel syndrome-4 (RTSC4) is characterized by a constellation of congenital anomalies, including dysmorphic craniofacial features and structural brain anomalies, such as Dandy-Walker malformation (220200), hindbrain malformations, or agenesis of the corpus callosum, associated with global developmental delay and impaired intellectual development. Congenital cardiac defects have been reported in 1 family (summary by Ritscher et al., 1987 and Jeanne et al., 2021). For a discussion of genetic heterogeneity of Ritscher-Schinzel syndrome, see RTSC1 (220210).
Developmental and epileptic encephalopathy 97
MedGen UID:
1794209
Concept ID:
C5561999
Disease or Syndrome
Developmental and epileptic encephalopathy-97 (DEE97) is characterized by developmental delay, epileptic encephalopathy, and impaired intellectual development. Other clinical features may include autistic features and hypotonia. For a general phenotypic description and a discussion of genetic heterogeneity of DEE, see 308350.
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
MedGen UID:
1794216
Concept ID:
C5562006
Disease or Syndrome
Neurodevelopmental disorder with impaired language and ataxia and with or without seizures (NEDLAS) is characterized by axial hypotonia and global developmental delay apparent in early infancy. Affected individuals have delayed walking with gait ataxia and poor language development. Behavioral abnormalities also commonly occur. The severity is highly variable: a subset of patients have a more severe phenotype with early-onset seizures resembling epileptic encephalopathy, inability to walk or speak, and hypomyelination on brain imaging (summary by Stolz et al., 2021).
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
MedGen UID:
1794248
Concept ID:
C5562038
Disease or Syndrome
Neurodevelopmental disorder with hyperkinetic movements and dyskinesia (NEDHYD) is an autosomal recessive complex neurologic disorder characterized by severe global developmental delay with axial hypotonia, impaired intellectual development, poor overall growth, and abnormal involuntary hyperkinetic movements, including dystonia, myoclonus, spasticity, and orofacial dyskinesia. It is the most severe manifestation of ADCY5-related dyskinetic disorders (summary by Okamoto et al., 2021 and Kaiyrzhanov et al., 2021).
Brunet-Wagner neurodevelopmental syndrome
MedGen UID:
1794266
Concept ID:
C5562056
Disease or Syndrome
Brunet-Wagner neurodevelopmental syndrome (BRUWAG) is an autosomal recessive disorder characterized by infantile hypotonia and severely impaired development affecting both motor and cognitive skills. Affected individuals either do not achieve independent ambulation or walk with an unsteady gait; those who walk may lose the ability due to spasticity of the lower limbs. They have absent language, poor or absent social skills, and behavioral abnormalities. Most have variable ocular findings, including nystagmus, strabismus, optic atrophy, myopia, or hypermetropia (summary by Brunet et al., 2020 and Samra et al., 2021).
Bryant-Li-Bhoj neurodevelopmental syndrome 1
MedGen UID:
1801103
Concept ID:
C5676905
Disease or Syndrome
Bryant-Li-Bhoj neurodevelopmental syndrome-1 (BRYLIB1) is a highly variable phenotype characterized predominantly by moderate to severe global developmental delay with impaired intellectual development, poor or absent speech, and delayed motor milestones. Most patients have hypotonia, although some have peripheral hypertonia. Common features include abnormal head shape, variable dysmorphic facial features, oculomotor abnormalities, feeding problems, and nonspecific brain imaging abnormalities. Additional features may include hearing loss, seizures, short stature, and mild skeletal defects (summary by Bryant et al., 2020). Genetic Heterogeneity of Bryant-Li-Bhoj Neurodevelopmental Syndrome See also BRYLIB2 (619721), caused by heterozygous mutation in the H3F3B gene (601058).
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities
MedGen UID:
1812577
Concept ID:
C5676975
Disease or Syndrome
Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities (NEDHISB) is characterized by global developmental delay apparent since infancy or early childhood, hypotonia with delayed motor development, impaired intellectual development with significant speech delay or absent speech, and variable behavioral abnormalities, such as autism, repetitive actions, or aggression. About two-thirds of patients have early-onset seizures that range from intractable to self-limiting. More variable features include nonspecific dysmorphic facial features, distal skeletal anomalies, and brain imaging abnormalities. The phenotypic manifestations and severity are highly variable (Muir et al., 2021).
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy
MedGen UID:
1823958
Concept ID:
C5774185
Disease or Syndrome
Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy (NEDMLHB) is characterized by the onset of these features soon after birth or in early infancy. Affected individuals make almost no developmental progress, are unable to sit or walk, do not acquire speech, have poor visual fixation, and show poor overall growth associated with feeding problems. Some may have a progressive disease course, suggesting neurodegeneration. Additional more variable features include seizures, spasticity, and joint contractures. Brain imaging shows hypomyelination, thin corpus callosum, and cerebral and cerebellar atrophy (Wong et al., 2022).
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders
MedGen UID:
1823997
Concept ID:
C5774224
Disease or Syndrome
Developmental delay, behavioral abnormalities, and neuropsychiatric disorders (DEDBANP) is a neurodevelopmental disorder characterized by mild global developmental delay and normal or variably impaired intellectual development. Most individuals have behavioral or neuropsychiatric disorders, including autism spectrum disorder (ASD), attention deficit-hyperactivity disorder (ADHD), and executive functioning deficits. Additional features may include speech delay, dysmorphic features, hypotonia, sleep disturbances, and seizures (Vitobello et al., 2022).
Congenital disorder of glycosylation, type IIy
MedGen UID:
1824067
Concept ID:
C5774294
Disease or Syndrome
Congenital disorder of glycosylation type IIy (CDG2Y) is an autosomal recessive multisystemic congenital disorder characterized by poor overall growth and global developmental delay with impaired intellectual development. Other features may include hypotonia, seizures, brain imaging abnormalities, dysmorphic features, and various skeletal defects. Laboratory studies show a subtle type II glycosylation defect of serum transferrin (Tambe et al., 2020). For a general discussion of CDGs, see CDG1A (212065).
Congenital myopathy 2b, severe infantile, autosomal recessive
MedGen UID:
1840936
Concept ID:
C5830300
Disease or Syndrome
Autosomal recessive congenital myopathy-2B (CMYP2B) is a disorder of the skeletal muscle characterized by severe hypotonia with lack of spontaneous movements and respiratory insufficiency, usually leading to death in infancy or early childhood (Agrawal et al., 2004). However, longer survival has also been reported, likely due to the type of mutation and extent of its impact (O'Grady et al., 2015). Mutations in the ACTA1 gene can cause a range of skeletal muscle diseases. About 90% of patients with ACTA1 mutations carry heterozygous mutations, usually de novo (CMYP2A; 161800), whereas 10% of patients carry biallelic ACTA1 mutations (CMYP2B) (Nowak et al., 2007). For a discussion of genetic heterogeneity of congenital myopathy, see CMYP1A (117000).

Professional guidelines

PubMed

Lashkarbolouk N, Mazandarani M, Ilharreborde B, Nabian MH
BMC Pediatr 2023 Nov 18;23(1):578. doi: 10.1186/s12887-023-04395-2. PMID: 37980513Free PMC Article
Collins JT, Noble S, Chester J, Davies HE, Evans WD, Farewell D, Lester JF, Parry D, Pettit R, Byrne A
Support Care Cancer 2018 Jan;26(1):119-127. Epub 2017 Jul 18 doi: 10.1007/s00520-017-3821-6. PMID: 28721555

Recent clinical studies

Etiology

Lashkarbolouk N, Mazandarani M, Ilharreborde B, Nabian MH
BMC Pediatr 2023 Nov 18;23(1):578. doi: 10.1186/s12887-023-04395-2. PMID: 37980513Free PMC Article
Ziegl A, Hayn D, Kastner P, Fabiani E, Šimunič B, Löffler K, Weidinger L, Brix B, Goswami N, Günter S
Sensors (Basel) 2021 Sep 30;21(19) doi: 10.3390/s21196539. PMID: 34640875Free PMC Article
Hospodar CM, Sabet A, Logan SW, Catena MA, Galloway JC
Disabil Rehabil Assist Technol 2021 Oct;16(7):749-757. Epub 2020 Jan 15 doi: 10.1080/17483107.2019.1710773. PMID: 31939311Free PMC Article
Labrecque L, Rahimaly K, Imhoff S, Paquette M, Le Blanc O, Malenfant S, Drapeau A, Smirl JD, Bailey DM, Brassard P
Physiol Rep 2019 Jan;7(2):e13984. doi: 10.14814/phy2.13984. PMID: 30652420Free PMC Article
Janky KL, Thomas MLA, High RR, Schmid KK, Ogun OA
Am J Audiol 2018 Mar 8;27(1):137-146. doi: 10.1044/2017_AJA-17-0058. PMID: 29482202Free PMC Article

Diagnosis

Lashkarbolouk N, Mazandarani M, Ilharreborde B, Nabian MH
BMC Pediatr 2023 Nov 18;23(1):578. doi: 10.1186/s12887-023-04395-2. PMID: 37980513Free PMC Article
Poncumhak P, Wiyanad A, Siriyakul C, Kosura N, Amatachaya P, Amatachaya S
Physiother Theory Pract 2023 Mar;39(3):623-630. Epub 2022 Jan 6 doi: 10.1080/09593985.2021.2023931. PMID: 34989326
Rebholz H, Pfaffeneder-Mantai F, Knoll W, Hassel AW, Frank W, Kleber C
Am J Otolaryngol 2021 Sep-Oct;42(5):103014. Epub 2021 Apr 13 doi: 10.1016/j.amjoto.2021.103014. PMID: 33873048Free PMC Article
Janky KL, Thomas MLA, High RR, Schmid KK, Ogun OA
Am J Audiol 2018 Mar 8;27(1):137-146. doi: 10.1044/2017_AJA-17-0058. PMID: 29482202Free PMC Article
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK
Pediatr Neurol 2017 May;70:20-25. Epub 2017 Feb 7 doi: 10.1016/j.pediatrneurol.2017.01.032. PMID: 28347601Free PMC Article

Therapy

Lee SY, Pang BWJ, Lau LK, Jabbar KA, Seah WT, Chen KK, Ng TP, Wee SL
BMJ Open 2021 Nov 22;11(11):e052557. doi: 10.1136/bmjopen-2021-052557. PMID: 34810188Free PMC Article
Hospodar CM, Sabet A, Logan SW, Catena MA, Galloway JC
Disabil Rehabil Assist Technol 2021 Oct;16(7):749-757. Epub 2020 Jan 15 doi: 10.1080/17483107.2019.1710773. PMID: 31939311Free PMC Article
Labrecque L, Rahimaly K, Imhoff S, Paquette M, Le Blanc O, Malenfant S, Drapeau A, Smirl JD, Bailey DM, Brassard P
Physiol Rep 2019 Jan;7(2):e13984. doi: 10.14814/phy2.13984. PMID: 30652420Free PMC Article
Mehrholz J, Thomas S, Burridge JH, Schmidt A, Scheffler B, Schellin R, Rückriem S, Meißner D, Mehrholz K, Sauter W, Bodechtel U, Elsner B
Trials 2016 Nov 24;17(1):559. doi: 10.1186/s13063-016-1687-4. PMID: 27881152Free PMC Article
Hasbargen U, Reber D, Versmold H, Schulze A
Eur J Pediatr 2001 Sep;160(9):552-5. doi: 10.1007/s004310100804. PMID: 11585078

Prognosis

Nickel M, Gissen P, Greenaway R, Cappelletti S, Hamborg C, Ragni B, Ribitzki T, Schulz A, Tondo I, Specchio N
Neuropediatrics 2023 Dec;54(6):402-406. Epub 2023 Jun 17 doi: 10.1055/s-0043-1770143. PMID: 37329878Free PMC Article
Matsubara Y, Osaka H, Yamagata T, Ae R, Shimizu J, Oguro N
Brain Dev 2018 Oct;40(9):807-812. Epub 2018 Jun 8 doi: 10.1016/j.braindev.2018.05.013. PMID: 29891405
Janky KL, Thomas MLA, High RR, Schmid KK, Ogun OA
Am J Audiol 2018 Mar 8;27(1):137-146. doi: 10.1044/2017_AJA-17-0058. PMID: 29482202Free PMC Article
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK
Pediatr Neurol 2017 May;70:20-25. Epub 2017 Feb 7 doi: 10.1016/j.pediatrneurol.2017.01.032. PMID: 28347601Free PMC Article
O'Brien KM, Zhang J, Walley PR, Rhoads JF, Haddad JM, Claxton LJ
Dev Sci 2015 Jul;18(4):622-34. Epub 2014 Nov 28 doi: 10.1111/desc.12238. PMID: 25442426

Clinical prediction guides

Nickel M, Gissen P, Greenaway R, Cappelletti S, Hamborg C, Ragni B, Ribitzki T, Schulz A, Tondo I, Specchio N
Neuropediatrics 2023 Dec;54(6):402-406. Epub 2023 Jun 17 doi: 10.1055/s-0043-1770143. PMID: 37329878Free PMC Article
Baxter BA, Baross AW, Ryan DJ, Wright BH, Kay AD
Eur J Appl Physiol 2023 Oct;123(10):2131-2143. Epub 2023 May 22 doi: 10.1007/s00421-023-05226-z. PMID: 37217609Free PMC Article
Durrough C, Colazo JM, Simmons J, Hu JR, Hudson M, Black M, de Riesthal M, Dahir K
Bone 2021 Jan;142:115695. Epub 2020 Oct 16 doi: 10.1016/j.bone.2020.115695. PMID: 33069919
Janky KL, Thomas MLA, High RR, Schmid KK, Ogun OA
Am J Audiol 2018 Mar 8;27(1):137-146. doi: 10.1044/2017_AJA-17-0058. PMID: 29482202Free PMC Article
Killian JT, Lane JB, Lee HS, Skinner SA, Kaufmann WE, Glaze DG, Neul JL, Percy AK
Pediatr Neurol 2017 May;70:20-25. Epub 2017 Feb 7 doi: 10.1016/j.pediatrneurol.2017.01.032. PMID: 28347601Free PMC Article

Recent systematic reviews

Lashkarbolouk N, Mazandarani M, Ilharreborde B, Nabian MH
BMC Pediatr 2023 Nov 18;23(1):578. doi: 10.1186/s12887-023-04395-2. PMID: 37980513Free PMC Article

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