At a Glance
Congenital myasthenic syndrome 4B;
3-Methylglutaconic aciduria type 2;
Abortive cerebellar ataxia
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Congenital myasthenic syndrome 4B
3-Methylglutaconic aciduria type 2
Abortive cerebellar ataxia
Actin accumulation myopathy
Acyl-CoA dehydrogenase 9 deficiency
Adult polyglucosan body disease
Agenesis of the corpus callosum with peripheral neuropathy
Alveolar rhabdomyosarcoma
Amyotrophic lateral sclerosis type 1
Amyotrophic lateral sclerosis type 21
Amyotrophic lateral sclerosis type 8
Andersen Tawil syndrome
Arrhythmogenic right ventricular dysplasia 1
Arthrogryposis multiplex congenita 1, neurogenic, with myelin defect
Arthrogryposis multiplex congenita 5
Arthrogryposis multiplex congenita 6
Arthrogryposis, distal, type 2B2
Arthrogryposis, distal, with impaired proprioception and touch
Arthrogryposis, renal dysfunction, and cholestasis 1
Arthrogryposis, renal dysfunction, and cholestasis 2
Autosomal dominant centronuclear myopathy
Autosomal dominant cerebellar ataxia, deafness and narcolepsy
Autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)
Autosomal dominant limb-girdle muscular dystrophy type 1F
Autosomal dominant limb-girdle muscular dystrophy type 1G
Autosomal dominant mitochondrial myopathy with exercise intolerance
Autosomal recessive ataxia, Beauce type
Autosomal recessive axonal neuropathy with neuromyotonia
Autosomal recessive limb-girdle muscular dystrophy type 2A
Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2D
Autosomal recessive limb-girdle muscular dystrophy type 2E
Autosomal recessive limb-girdle muscular dystrophy type 2I
Autosomal recessive limb-girdle muscular dystrophy type 2J
Autosomal recessive limb-girdle muscular dystrophy type 2P
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive limb-girdle muscular dystrophy type 2R1
Autosomal recessive limb-girdle muscular dystrophy type 2T
Autosomal recessive limb-girdle muscular dystrophy type 2U
Autosomal recessive limb-girdle muscular dystrophy type 2X
Autosomal recessive limb-girdle muscular dystrophy type 2Y
Autosomal recessive limb-girdle muscular dystrophy type R18
Autosomal recessive lower motor neuron disease with childhood onset
Autosomal recessive multiple pterygium syndrome
Autosomal recessive nonsyndromic hearing loss 89
Bailey-Bloch congenital myopathy
Bardet-Biedl syndrome 11
Becker muscular dystrophy
Bethlem myopathy 1
Bethlem myopathy 2
Bilateral parasagittal parieto-occipital polymicrogyria
Brody myopathy
Brown-Vialetto-van Laere syndrome 1
Brown-Vialetto-van Laere syndrome 2
Bruck syndrome 1
Bruck syndrome 2
Brugada syndrome 6
Carney complex - trismus - pseudocamptodactyly syndrome
Carnitine acylcarnitine translocase deficiency
Carnitine palmitoyl transferase II deficiency, neonatal form
Cataract 19 multiple types
Cerebrooculofacioskeletal syndrome 1
Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked dominant 6
Charcot-Marie-Tooth disease axonal type 2F
Charcot-Marie-Tooth disease axonal type 2L
Charcot-Marie-Tooth disease axonal type 2P
Charcot-Marie-Tooth disease axonal type 2Q
Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease axonal type 2X
Charcot-Marie-Tooth disease dominant intermediate E
Charcot-Marie-Tooth disease dominant intermediate F
Charcot-Marie-Tooth disease recessive intermediate A
Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1D
Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2R
Charcot-Marie-Tooth disease type 4B1
Charcot-Marie-Tooth disease type 4B2
Charcot-Marie-Tooth disease type 4B3
Charcot-Marie-Tooth disease type 4C
Charcot-Marie-Tooth disease type 4D
Charcot-Marie-Tooth disease type 4F
Charcot-Marie-Tooth disease type 4G
Charcot-Marie-Tooth disease type 4H
Charcot-Marie-Tooth disease, type IA
Coenzyme Q10 deficiency, primary, 1
Cold-induced sweating syndrome 1
Colorectal cancer
Combined immunodeficiency due to STIM1 deficiency
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Congenital disorder of glycosylation type 1E
Congenital generalized lipodystrophy type 3
Congenital multicore myopathy with external ophthalmoplegia
Congenital muscular dystrophy due to integrin alpha-7 deficiency
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Congenital myasthenic syndrome 10
Congenital myasthenic syndrome 11
Congenital myasthenic syndrome 12
Congenital myasthenic syndrome 14
Congenital myasthenic syndrome 19
Congenital myasthenic syndrome 20
Congenital myasthenic syndrome 21
Congenital myasthenic syndrome 2C
Congenital myasthenic syndrome 3C
Congenital myasthenic syndrome 5
Congenital myasthenic syndrome 7
Congenital myasthenic syndrome 8
Congenital myopathy 4B, autosomal recessive
Congenital myopathy with fiber type disproportion
Congenital myopathy with internal nuclei and atypical cores
Congenital myopathy with reduced type 2 muscle fibers
Congenital myotonia, autosomal recessive form
Congenital nonprogressive myopathy with Moebius and Robin sequences
Congenital vertical talus
Costello syndrome
Cutis laxa, autosomal dominant 2
D,L-2-hydroxyglutaric aciduria
DPAGT1-congenital disorder of glycosylation
Danon disease
Desmosterolosis
Developmental and epileptic encephalopathy, 8
Diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome
Dilated cardiomyopathy 1C
Dilated cardiomyopathy 1L
Distal arthrogryposis type 2B1
Distal arthrogryposis type 5D
Distal myopathy, Tateyama type
Early-onset myopathy with fatal cardiomyopathy
Ehlers-Danlos syndrome, kyphoscoliotic and deafness type
Ehlers-Danlos syndrome, musculocontractural type 1
Emery-Dreifuss muscular dystrophy 5, autosomal dominant
Emery-Dreifuss muscular dystrophy 7, autosomal dominant
Episodic ataxia type 1
FG syndrome 4
Facioscapulohumeral muscular dystrophy 2
Familial digital arthropathy-brachydactyly
Familial infantile myasthenia
Farber lipogranulomatosis
Fatal infantile hypertonic myofibrillar myopathy
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Fetal akinesia deformation sequence 1
Freeman-Sheldon syndrome
Frontotemporal dementia and/or amyotrophic lateral sclerosis 2
Frontotemporal dementia and/or amyotrophic lateral sclerosis 6
Gaucher disease type I
Genitopatellar syndrome
Giant axonal neuropathy 1
Glycogen storage disease IXd
Glycogen storage disease XV
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease type III
Glycogen storage disease type X
Glycogen storage disease, type II
Glycogen storage disease, type V
Glycogen storage disease, type VII
HNSHA due to aldolase A deficiency
Heart-hand syndrome, Slovenian type
Hereditary insensitivity to pain with anhidrosis
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Hereditary spastic paraplegia 10
Hereditary spastic paraplegia 30
Hereditary spastic paraplegia 57
Hyperekplexia 1
Hyperekplexia 2
Hyperekplexia 3
Hyperekplexia 4
Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
Hypertrophic cardiomyopathy 10
Hypertrophic cardiomyopathy 12
Hypertrophic cardiomyopathy 25
Hypokalemic periodic paralysis, type 1
Hypokalemic periodic paralysis, type 2
Hypospadias 2, X-linked
Hypotonia, infantile, with psychomotor retardation and characteristic facies 1
Hypotonia, infantile, with psychomotor retardation and characteristic facies 3
Infantile onset spinocerebellar ataxia
Infantile-onset X-linked spinal muscular atrophy
Intellectual disability, autosomal dominant 13
Ketoacidosis due to monocarboxylate transporter-1 deficiency
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Kugelberg-Welander disease
Left ventricular noncompaction 10
Lethal Kniest-like syndrome
Lethal congenital contracture syndrome 1
Lethal congenital contracture syndrome 11
Lethal congenital contracture syndrome 3
Lethal congenital contracture syndrome 9
Lethal multiple pterygium syndrome
Leukoencephalopathy, hereditary diffuse, with spheroids 2
Limb-girdle muscular dystrophy due to POMK deficiency
Lower motor neuron syndrome with late-adult onset
MEGF10-related myopathy
MYH7-related skeletal myopathy
MYPN-related myopathy
Macular degeneration, early-onset
Marinesco-Sjögren syndrome
McLeod neuroacanthocytosis syndrome
Medium-chain acyl-coenzyme A dehydrogenase deficiency
Medulloblastoma
Megaconial type congenital muscular dystrophy
Megacystis-microcolon-intestinal hypoperistalsis syndrome 5
Mitochondrial DNA deletion syndrome with progressive myopathy
Mitochondrial DNA depletion syndrome 1
Mitochondrial DNA depletion syndrome 3 (hepatocerebral type)
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Mitochondrial myopathy, episodic, with optic atrophy and reversible leukoencephalopathy
Mitochondrial trifunctional protein deficiency
Miyoshi muscular dystrophy 1
Miyoshi muscular dystrophy 3
Multiple acyl-CoA dehydrogenase deficiency
Muscle AMP deaminase deficiency
Muscular dystrophy, limb-girdle, autosomal recessive 23
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type b, 15
Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
Myasthenic syndrome, congenital, 22
Myasthenic syndrome, congenital, 23, presynaptic
Myasthenic syndrome, congenital, 24, presynaptic
Myoclonic dystonia 11
Myofibrillar myopathy 3
Myofibrillar myopathy 6
Myofibrillar myopathy 7
Myofibrillar myopathy 8
Myoglobinuria, acute recurrent, autosomal recessive
Myopathy due to calsequestrin and SERCA1 protein overload
Myopathy with abnormal lipid metabolism
Myopathy, centronuclear, 2
Myopathy, centronuclear, 5
Myopathy, congenital, with tremor
Myopathy, epilepsy, and progressive cerebral atrophy
Myopathy, myofibrillar, 9, with early respiratory failure
Myopathy, proximal, and ophthalmoplegia
Myopathy, reducing body, X-linked, childhood-onset
Myopathy, reducing body, X-linked, early-onset, severe
Myosclerosis
Nemaline myopathy 10
Nemaline myopathy 2
Nemaline myopathy 4
Nemaline myopathy 5
Nemaline myopathy 6
Nemaline myopathy 7
Nemaline myopathy 8
Nemaline myopathy 9
Neuroblastoma, susceptibility to, 1
Neurodevelopmental disorder with hypotonia, neuropathy, and deafness
Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies
Neurodevelopmental disorder with visual defects and brain anomalies
Neurogenic scapuloperoneal syndrome, Kaeser type
Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 2
Neuronopathy, distal hereditary motor, type 2C
Neuronopathy, distal hereditary motor, type 2D
Neuronopathy, distal hereditary motor, type 5A
Neuronopathy, distal hereditary motor, type 5B
Neuronopathy, distal hereditary motor, type 5C
Neuropathy, congenital hypomyelinating, 3
Neuropathy, hereditary motor and sensory, type 6B
Neuropathy, hereditary sensory and autonomic, type 1A
Neuropathy, hereditary sensory and autonomic, type 1C
Neuropathy, hereditary sensory and autonomic, type 2B
Neuropathy, hereditary sensory, type 1D
Neutral lipid storage myopathy
Optic atrophy 3
PGM1-congenital disorder of glycosylation
PMM2-congenital disorder of glycosylation
Phosphoribosylpyrophosphate synthetase superactivity
Pierson syndrome
Polyglucosan body myopathy type 1
Pontocerebellar hypoplasia type 1A
Pontocerebellar hypoplasia type 1B
Pontocerebellar hypoplasia type 2B
Pontocerebellar hypoplasia, type 1C
Pontocerebellar hypoplasia, type 1E
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3
Progressive sclerosing poliodystrophy
Proximal myopathy with extrapyramidal signs
Pseudohypoaldosteronism type 2C
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
Renal carnitine transport defect
Retinitis pigmentosa 42
Retinitis pigmentosa 76
Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction
Roussy-Lévy syndrome
Schaaf-Yang syndrome
Sclerosteosis 2
Severe X-linked myotubular myopathy
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Sialuria
Spastic ataxia 1
Spinal muscular atrophy with congenital bone fractures 2
Spinal muscular atrophy, lower extremity-predominant, 2b, prenatal onset, autosomal dominant
Spinal muscular atrophy, type IV
Spondyloepimetaphyseal dysplasia, Bieganski type
Steinert myotonic dystrophy syndrome
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
Tibial muscular dystrophy
Triglyceride storage disease with ichthyosis
Ullrich congenital muscular dystrophy 1
Uruguay Faciocardiomusculoskeletal syndrome
Very long chain acyl-CoA dehydrogenase deficiency
Welander distal myopathy
Wieacker-Wolff syndrome, female-restricted
Wolff-Parkinson-White pattern
X-linked Emery-Dreifuss muscular dystrophy
X-linked distal spinal muscular atrophy type 3
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
X-linked scapuloperoneal muscular dystrophy
Xeroderma pigmentosum, group G
Young adult-onset distal hereditary motor neuropathy
AARS1 (16q22.1);
ABHD5 (3p21.33);
ACAD9 (3q21.3);
ACADM (1p31.1);
ACADVL (17p13.1)
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Conditions
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Total conditions: 325
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Total methods: 0
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