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Items: 9

1.

Intellectual developmental disorder with autism and macrocephaly

CHD8-related neurodevelopmental disorder with overgrowth (CHD8-NDD) is characterized by generalized overgrowth, developmental delay / intellectual disability (DD/ID), autism spectrum disorder (ASD), neuropsychiatric issues, neurologic problems, sleep disturbance, and gastrointestinal issues The most common findings are the development of macrocephaly (most often during infancy) and tall stature (most typically during puberty), which is often accompanied by ASD and/or DD/ID. Most, if not all, affected individuals have some degree of DD, most commonly speech and motor delays. When present, ID is most often in the mild-to-moderate range. Sleep disturbance is characterized by difficulty with both initiation (delayed sleep onset) and maintenance (frequent night awakenings) of sleep. The most common gastrointestinal issue is constipation with or without periods of diarrhea. Less common features are hypotonia (about 30% of affected individuals), seizures (10%-15%), dystonia (rare), and Chiari I malformation (rare). [from GeneReviews]

MedGen UID:
767287
Concept ID:
C3554373
Disease or Syndrome
2.

Chromosome 17q12 deletion syndrome

The 17q12 recurrent deletion syndrome is characterized by variable combinations of the three following findings: structural or functional abnormalities of the kidney and urinary tract, maturity-onset diabetes of the young type 5 (MODY5), and neurodevelopmental or neuropsychiatric disorders (e.g., developmental delay, intellectual disability, autism spectrum disorder, schizophrenia, anxiety, and bipolar disorder). Using a method of data analysis that avoids ascertainment bias, the authors determined that multicystic kidneys and other structural and functional kidney anomalies occur in 85% to 90% of affected individuals, MODY5 in approximately 40%, and some degree of developmental delay or learning disability in approximately 50%. MODY5 is most often diagnosed before age 25 years (range: age 10-50 years). [from GeneReviews]

MedGen UID:
482768
Concept ID:
C3281138
Disease or Syndrome
3.

Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder

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. [from GeneReviews]

MedGen UID:
1385307
Concept ID:
C4479246
Disease or Syndrome
4.

Intellectual disability, autosomal dominant 52

MedGen UID:
1615839
Concept ID:
C4540478
Mental or Behavioral Dysfunction
5.

Intellectual disability, autosomal recessive 58

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene. [from MONDO]

MedGen UID:
934608
Concept ID:
C4310641
Mental or Behavioral Dysfunction
6.

Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features

Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (NEDMAGA) is characterized by infantile-onset global developmental delay with severe to profound intellectual disability, mildly delayed walking with broad-based and unsteady gait, and absence of meaningful language. Patients have features of autism, with repetitive behaviors and poor communication, but usually are socially reactive and have a happy demeanor. More variable neurologic features include mild seizures, spasticity, and peripheral neuropathy (summary by Palmer et al., 2017). [from OMIM]

MedGen UID:
1647077
Concept ID:
C4693405
Disease or Syndrome
7.

Neurodevelopmental disorder with seizures and speech and walking impairment

Neurodevelopmental disorder with seizures and speech and walking impairment (NEDSSWI) is an autosomal recessive disorder with onset in infancy. Patients show global developmental delay, particularly of speech acquisition, as well as walking difficulties due to hypotonia, hypertonia, spasticity, or poor coordination. Other features include seizures, mild dysmorphic features, and variable short stature. The pregnancies tend to be complicated by hyper- or hypotension (summary by Ganapathi et al., 2019). [from OMIM]

MedGen UID:
1672912
Concept ID:
C5193119
Disease or Syndrome
8.

Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities

Neurodevelopmental disorder with hypotonia, dysmorphic facies, and skin abnormalities (NEDHFS) is an autosomal recessive disorder characterized by severe global developmental delay with impaired intellectual development and poor or absent speech. Affected individuals have dysmorphic facies, including large abnormally shaped ears and strabismus, hypotonia, and dry skin with keratosis pilaris. Some patients develop seizures. Metabolic studies are unremarkable (Morava et al., 2021). [from OMIM]

MedGen UID:
1824058
Concept ID:
C5774285
Disease or Syndrome
9.

Pica

An appetite for and the persistent ingestion of non-food substances such as clay. In order to diagnose pica, this behavior must have persisted over a period of at least one month. [from HPO]

MedGen UID:
45917
Concept ID:
C0031873
Mental or Behavioral Dysfunction
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