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Gene: Pcmt1 MGI:97502

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
protein-L-isoaspartate (D-aspartate) O-methyltransferase 1
Synonyms:
PIMT,  protein carboxyl methyltransferase

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pcmt1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Pcmt1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Epilepsy, Familial Temporal Lobe, 1
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... OMIM:600512
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Myoclonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:619964
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... OMIM:614417
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Neonatal respiratory distress, Generalized myoclonic seizure, Elevated circulating alpha-aminoadi... OMIM:266100
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Glycine Encephalopathy 2
EEG with burst suppression, Respiratory failure, Nonketotic hyperglycinemia, Seizure OMIM:620398
Epilepsy, Familial Temporal Lobe, 8
Focal aware sensory seizure with auditory features, Bilateral tonic-clonic seizure with focal ons... OMIM:616461
Epilepsy, Progressive Myoclonic, 6
Ataxia, Atonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave complexes, M... OMIM:614018
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:620465
Developmental And Epileptic Encephalopathy 53
Convulsive status epilepticus, Myoclonic seizure, Seizure, Epileptic spasm, Elevated circulating ... OMIM:617389
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Hypocholesterolemia, Hypersplenism, Myoclonus, Intention tremor, Splenomegaly, Anemia, C... OMIM:610539
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure ORPHA:22
Developmental And Epileptic Encephalopathy 9
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... OMIM:300088
Developmental And Epileptic Encephalopathy 15
Myoclonic seizure, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic s... OMIM:615006
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure OMIM:603204
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Phosphoserine Phosphatase Deficiency
Postnatal growth retardation, Intrauterine growth retardation, Seizure OMIM:614023
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Epilepsy, Myoclonic Juvenile
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... OMIM:254770
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Spasticity, Seizure, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Hypertrigl... OMIM:615924
Developmental And Epileptic Encephalopathy 104
Focal impaired awareness seizure, Seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic... OMIM:619970
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Benign Familial Infantile Epilepsy
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... ORPHA:306
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Typical absence seizure, Limb myoclonus, Atonic seizure, Seizure, Myoclonus, Tremor, Abnormal low... ORPHA:2590
Epilepsy, Familial Adult Myoclonic, 4
Jerk-locked premyoclonus spikes, Seizure, Myoclonus, EEG with polyspike wave complexes, Tremor, E... OMIM:615127
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:604403
Epilepsy, Familial Adult Myoclonic, 1
EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus spikes, Giant s... OMIM:601068
Glycogen Storage Disease Vi
Failure to thrive in infancy, Postnatal growth retardation, Hyperlipidemia, Increased hepatic gly... OMIM:232700
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus, Bilateral tonic-clonic seizure OMIM:604827
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Bilateral tonic-cl... OMIM:245570
Hyperekplexia 4
Seizure, Infantile spasms, Myoclonus, Kyphoscoliosis, Hypsarrhythmia, Hypertonia, Respiratory fai... OMIM:618011
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure OMIM:613721
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:616172
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Failure to thrive, Seizure, Respiratory insufficiency, Abnormal motor nerv... OMIM:614399
Developmental And Epileptic Encephalopathy 26
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... OMIM:616056
Continuous Spikes And Waves During Sleep
Myoclonic absence seizure, Continuous spike and waves during slow sleep, Typical absence seizure,... ORPHA:725
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... OMIM:618357
Febrile Seizures, Familial, 5
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609255
Febrile Seizures, Familial, 6
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:609253
Febrile Seizures, Familial, 4
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:602477
Febrile Seizures, Familial, 1
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... OMIM:121210
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Tongue fasciculations, Generalized-onset seizure, Myoclonus, Tremor, Elevated circulating creatin... OMIM:159950
Centralopathic Epilepsy
Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure OMIM:117100
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... OMIM:612899
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Tonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:613722
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Bilateral tonic-clonic seizure, Seizure OMIM:614499
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Short stature, Bilateral tonic-clonic seizure OMIM:619639
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... OMIM:616685
Developmental And Epileptic Encephalopathy 94
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... OMIM:615369
Dravet Syndrome
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Sta... OMIM:607208
Epilepsy, Progressive Myoclonic, 9
Status epilepticus, Myoclonus, Gait ataxia, Agenesis of corpus callosum, Bilateral tonic-clonic s... OMIM:616540
Stxbp1-Related Encephalopathy
EEG with abnormally slow frequencies, Ataxia, Spasticity, Generalized myoclonic seizure, Focal im... ORPHA:599373
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613863
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis, EEG abnormality, Seizure OMIM:300518
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, EEG with generalized epileptiform discharges, Myoclonus, Tremor, Bilateral ton... OMIM:616187
Developmental And Epileptic Encephalopathy 74
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... OMIM:618396
Developmental And Epileptic Encephalopathy 54
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... OMIM:617391
Epilepsy, Idiopathic Generalized
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:600669
Hypokalemic Tubulopathy And Deafness
Hyperaldosteronism, Ataxia, Seizure, Increased circulating renin level OMIM:619406
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Tongue fasciculations, Atlantoaxial dislocation, Spondylolysis, Atlantoaxial instability, Spondyl... OMIM:600561
Proteasome-Associated Autoinflammatory Syndrome 5
Failure to thrive in infancy, Hepatomegaly, Splenomegaly, Hypertriglyceridemia OMIM:619175
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... OMIM:604233
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, EEG with spike-wave complexes, Myoclonus, EEG with polyspike wave complexes, Gait ataxia,... OMIM:618587
Developmental And Epileptic Encephalopathy 112
Focal aware motor seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Infantile ... OMIM:620537
Developmental And Epileptic Encephalopathy 31A
Myoclonic seizure, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Atonic seizure... OMIM:616346
Hemimegalencephaly
Hemihypsarrhythmia, Seizure, EEG with focal sharp slow waves, Interictal EEG abnormality, Epilept... ORPHA:99802
Epilepsy With Eyelid Myoclonia
Continuous spike and waves during slow sleep, Limb myoclonus, Generalized non-motor (absence) sei... ORPHA:139431
Developmental And Epileptic Encephalopathy 59
Focal clonic seizure, Infantile spasms, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic sei... OMIM:617904
Autosomal Dominant Epilepsy With Auditory Features
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... ORPHA:101046
Polymicrogyria, Bilateral Temporooccipital
Status epilepticus, Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness sei... OMIM:612691
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclonus, Bil... ORPHA:139426
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure OMIM:617863
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Elevated circulating creatine kinase concentration, Respiratory insufficiency due to muscle weakn... OMIM:300717
Hemophagocytic Lymphohistiocytosis, Familial, 4
Hemophagocytosis, Seizure, Increased circulating ferritin concentration, Splenomegaly, Anemia, Ly... OMIM:603552
Congenital Disorder Of Glycosylation, Type In
Spasticity, Failure to thrive, Seizure, Respiratory insufficiency, Myoclonus, Short neck, Ataxia,... OMIM:612015
Encephalopathy Due To Prosaposin Deficiency
Respiratory insufficiency, Myoclonus, Splenomegaly, Bilateral tonic-clonic seizure, Hepatomegaly ORPHA:139406
Cerebral Creatine Deficiency Syndrome 2
Ataxia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Elevated circulat... OMIM:612736
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... OMIM:608096
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Spasticity, Seizure, Myoclonus, Ataxia, Increased serum pyruvate, Generalized myoclonic seizure OMIM:545000
Developmental And Epileptic Encephalopathy 27
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Hyp... OMIM:616139
Yoon-Bellen Neurodevelopmental Syndrome
Spasticity, Failure to thrive, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, ... OMIM:619701
Chromosome 15Q11-Q13 Duplication Syndrome
Increased serum serotonin, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Truncal ataxia OMIM:608636
Diabetes Mellitus, Permanent Neonatal, 2
Type I diabetes mellitus, Myoclonic seizure, Reduced C-peptide level, Hypsarrhythmia, Bilateral t... OMIM:618856
Developmental And Epileptic Encephalopathy 24
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... OMIM:615871
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Spasticity, Seizure, Tetraparesis, Hyperinsulinemia, Myoclonus, ... ORPHA:363400
Developmental And Epileptic Encephalopathy 6B
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Epileptic ... OMIM:619317
Cerebellar Atrophy, Developmental Delay, And Seizures
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617643
Progressive Myoclonic Epilepsy Type 1
Limb ataxia, Myoclonus, EEG with polyspike wave complexes, Morning myoclonic jerks, Ataxia, Inten... ORPHA:308
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Focal myoclonic seizure, Seizure, Cerebral palsy, Hyperaldosteronism, Adrenal... ORPHA:369929
Infantile Spasms Syndrome
Hypsarrhythmia, Infantile spasms, Myoclonus ORPHA:3451
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Hand tremor, Myoclonus, Prolonged somatosensory evoked potentials, Focal hemifacial clonic seizur... OMIM:608105
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Seizure, Slender build, Myoclonus, Limb tremor, Focal tonic seizure, Hypertonia, Interictal epile... OMIM:300699
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonic seizure, Myoclonus, Seizure OMIM:162350
Developmental And Epileptic Encephalopathy 40
Spasticity, Seizure, Intrauterine growth retardation, Myoclonus, Hypsarrhythmia, Spastic tetrapar... OMIM:617065
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Hypocholesterolemia, Hypotriglyceridemia, Decreased circulating apolipoprotein A-I concentration,... OMIM:620058
Isolated Focal Cortical Dysplasia
Focal impaired awareness seizure, Seizure, Generalized-onset seizure, Epileptic spasm, Infantile ... ORPHA:65683
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:1941
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:617924
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... OMIM:611364
Epilepsy, Familial Temporal Lobe, 6
Focal impaired awareness seizure, Status epilepticus, Febrile seizure (within the age range of 3 ... OMIM:615697
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Spasticity, Myoclonic seizure, Cerebral palsy, Decreased circulating renin level, Hypokalemia, Bi... OMIM:615474
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Typical absence seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ... OMIM:607682
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Failure to thrive, Hepatic steatosis, Splenomegaly, Hypertriglyceridemia, Hepat... OMIM:614480
Seizures, Benign Familial Neonatal, 1
Focal clonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of 3 ... OMIM:121200
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Seizur... OMIM:617831
Benign Adult Familial Myoclonic Epilepsy
Hand tremor, Generalized-onset seizure, Myoclonus, EEG abnormality, Focal-onset seizure ORPHA:86814
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Seizure, Respiratory insufficiency, Elevated circulating creatine kinase concentration, Lower lim... OMIM:617404
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:101039
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
EEG abnormality, Involuntary movements, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617171
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:614558
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Clonic seizure, Status epilepticus OMIM:618924
Seizures, Benign Familial Infantile, 2
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:605751
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno... ORPHA:95434
Developmental And Epileptic Encephalopathy 33
Myoclonic seizure, Typical absence seizure, Seizure, Epileptic spasm, Bilateral tonic-clonic seizure OMIM:616409
Lennox-Gastaut Syndrome
EEG with focal sharp slow waves, Myoclonus, Focal-onset seizure, Generalized tonic seizure, EEG a... ORPHA:2382
Landau-Kleffner Syndrome
EEG with frontal focal spikes, Non-convulsive status epilepticus without coma, EEG with generaliz... ORPHA:98818
East Syndrome
Seizure, Hypomagnesemia, Hyperaldosteronism, Generalized-onset seizure, Action tremor, Hypokalemi... ORPHA:199343
Foxg1 Syndrome
Spasticity, Infantile spasms, Myoclonus, Focal-onset seizure, Agenesis of corpus callosum, Decrea... ORPHA:561854
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral toni... OMIM:607745
Autosomal Recessive Spastic Paraplegia Type 48
Progressive spastic paraplegia, Myoclonus, Elevated circulating creatine kinase concentration, Ab... ORPHA:306511
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, EEG with spike-wave complexes, Myoclonus, EEG with polys... OMIM:254800
Spinocerebellar Ataxia, Autosomal Recessive 12
Spasticity, Limb ataxia, Gait ataxia, Babinski sign, Lower limb spasticity, EEG abnormality, Bila... OMIM:614322
Potocki-Lupski Syndrome
Failure to thrive, Seizure, Hypocholesterolemia, Hypothyroidism, EEG abnormality, Short stature, ... OMIM:610883
Combined Oxidative Phosphorylation Deficiency 34
Elevated circulating thyroid-stimulating hormone concentration, Failure to thrive, Elevated circu... OMIM:617872
Dravet Syndrome
Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni... ORPHA:33069
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... OMIM:177735
Epilepsy, Progressive Myoclonic, 11
Giant somatosensory evoked potentials, Seizure, Myoclonus, Rigidity, Ataxia, Intention tremor OMIM:618876
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Limb fasciculations, Abnormal peripheral action potential amplitude, Tremor, Elevated circulating... ORPHA:90117
Adrenocortical Carcinoma
Increased circulating cortisol level, Increased urinary cortisol level, Hyperaldosteronism, Incre... ORPHA:1501
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
EEG abnormality, Clumsiness, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:610003
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hyposerinemia, Lateral ventricle dilatation, Seizure, Failure to thrive in infancy, Epileptic spa... ORPHA:284417
Atherosclerosis Susceptibility
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:108725
Developmental And Epileptic Encephalopathy 69
Myoclonus, Hyperkinetic movements, Hypsarrhythmia, EEG abnormality, Status epilepticus, Spastic t... OMIM:618285
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Myoclonus, EEG with photoparoxysmal response, Truncal ataxia, Bilateral tonic-clonic... OMIM:616230
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Myoclonic seizure, Neonatal respiratory distress, Seizure, EEG with burst suppression... ORPHA:168486
Salt And Pepper Developmental Regression Syndrome
Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure, Multifocal epileptiform discharges,... OMIM:609056
Developmental And Epileptic Encephalopathy 98
Refractory status epilepticus, Focal-onset seizure, Clonic seizure, Bilateral tonic-clonic seizur... OMIM:619605
Ceroid Lipofuscinosis, Neuronal, 8
Myoclonus, EEG abnormality, Seizure, Ataxia OMIM:600143
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with focal onset... OMIM:611726
Developmental And Epileptic Encephalopathy 34
Seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Focal hemiclonic s... OMIM:616645
Combined Oxidative Phosphorylation Deficiency 51
Severe short stature, Neonatal respiratory distress, Intrauterine growth retardation, Myoclonus, ... OMIM:619057
Hypertriglyceridemia 2
Hypercholesterolemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:619324
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Elevated circula... OMIM:271980
Combined Saposin Deficiency
Fasciculations, Myoclonus, Splenomegaly, Hyperkinetic movements, Babinski sign, Generalized cloni... OMIM:611721
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Hyperaldosteronism, Hyponatremia, Pseudohypoaldosteronism, Hyperactive renin-a... OMIM:264350
Early Myoclonic Encephalopathy
Infantile spasms, Myoclonus, Focal seizure with eyelid myoclonia, Hypsarrhythmia, EEG abnormality... ORPHA:1935
Familial Focal Epilepsy With Variable Foci
Interictal EEG abnormality, Infantile spasms, Focal-onset seizure, Deja vu aura, Nocturnal seizur... ORPHA:98820
Developmental And Epileptic Encephalopathy 108
Convulsive status epilepticus, Myoclonic seizure, Focal impaired awareness seizure, Generalized n... OMIM:620115
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Status epilepticus without prominent motor symptoms, Myoclonus, Focal-onset seizure, Bilateral to... OMIM:204300
Congenital Disorder Of Glycosylation, Type Iaa
Failure to thrive, Pseudobulbar paralysis, Intrauterine growth retardation, Appendicular spastici... OMIM:617082
Febrile Seizures, Familial, 11
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age... OMIM:614418
Developmental And Epileptic Encephalopathy 43
Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atypical abs... OMIM:617113
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Seizure, Ankle clonus, Babinski sign, Lower limb spasticity, Scoliosis, Kypho... OMIM:611225
Niemann-Pick Disease, Type B
Sea-blue histiocytosis, Increased LDL cholesterol concentration, Hypertriglyceridemia, Splenomega... OMIM:607616
Myoclonic Epilepsy, Familial Infantile
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bila... OMIM:605021
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Short stature, Hypertriglyceridemia ORPHA:366
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Infantile spasms, Focal atonic seizure, Bilateral tonic-clonic sei... ORPHA:101071
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Recurrent tonsillitis, Abnormal circulating aldosterone, Failure to thrive in inf... ORPHA:171876
Malignant Migrating Focal Seizures Of Infancy
Precocious puberty, Myoclonic seizure, Failure to thrive, Epileptic spasm, Bilateral tonic-clonic... ORPHA:293181
Hyperphenylalaninemia, Bh4-Deficient, C
Seizure, Myoclonus, Tremor, Hyperphenylalaninemia, Hypertonia, Choreoathetosis OMIM:261630
Glycosylphosphatidylinositol Biosynthesis Defect 17
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Dysplastic corpus callosu... OMIM:618010
Combined Oxidative Phosphorylation Deficiency 52
Seizure, Adrenal insufficiency, Hyperglycinemia, Hyperamylasemia, Hepatic steatosis, Elevated cir... OMIM:619386
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:300388
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Seizure, Chorea, Abnormal erythrocyte morphology, Myoclonus, Hemiparesis, Paralysis, ... ORPHA:71277
Morbid Obesity And Spermatogenic Failure
Increased LDL cholesterol concentration, Obesity, Type II diabetes mellitus, Hypertriglyceridemia... OMIM:615703
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Developmental And Epileptic Encephalopathy 30
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Seizure OMIM:616341
Hypoalphalipoproteinemia, Primary, 1
Decreased HDL cholesterol concentration, Hypertriglyceridemia OMIM:604091
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Seizure, Myoclonus, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Babinski s... OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 2
Abnormal nervous system electrophysiology, Myoclonus, Seizure, Ataxia OMIM:204500
Immunodeficiency 114, Folate-Responsive
Seizure, Increased circulating ferritin concentration, Lymphopenia, Postnatal growth retardation,... OMIM:620603
Severe Neonatal-Onset Encephalopathy With Microcephaly
Spasticity, Involuntary movements, Seizure, Respiratory insufficiency, EEG with focal slow activi... ORPHA:209370
Lissencephaly 10
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... OMIM:618873
Episodic Ataxia, Type 5
Typical absence seizure, Febrile seizure (within the age range of 3 months to 6 years), Episodic ... OMIM:613855
Developmental And Epileptic Encephalopathy 109
Spasticity, Myoclonic seizure, Typical absence seizure, Failure to thrive, Intrauterine growth re... OMIM:620145
Myoclonic Epilepsy Of Infancy
Poor motor coordination, EEG with irregular generalized spike and wave complexes, Poor hand-eye c... ORPHA:86909
Phosphoserine Aminotransferase Deficiency
Hypoglycinemia, Hyposerinemia, Seizure, Myoclonus, Hypertonia OMIM:610992
Spinocerebellar Ataxia, Autosomal Recessive 4
Spasticity, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyra... OMIM:607317
Progressive Myoclonic Epilepsy With Dystonia
EEG with irregular generalized spike and wave complexes, Generalized myoclonic seizure, Hemiplegi... ORPHA:352596
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Atonic seizure, Kinetic tremor OMIM:611092
Hemophagocytic Lymphohistiocytosis, Familial, 1
Hemophagocytosis, Increased LDL cholesterol concentration, Tetraplegia, Ataxia, Hepatomegaly, Jau... OMIM:267700
Epilepsy, Familial Focal, With Variable Foci 4
Focal impaired awareness seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Simple feb... OMIM:617935
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Status epilepticus without prominent motor symptoms, Complex febrile seizure, Seizure precipitate... ORPHA:363549
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Episodic ataxia, Myoclonus, Tremor, Agenesis of corpus callosum, Respiratory failure, Hy... OMIM:312170
Developmental And Epileptic Encephalopathy 91
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Tonic seizure, Hypsarrhythmia, Bilateral... OMIM:617711
Benign Familial Neonatal Epilepsy
Focal autonomic seizure, Neonatal seizure, Limb myoclonus, Focal EEG discharges with secondary ge... ORPHA:1949
Epilepsy, Childhood Absence, Susceptibility To, 1
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:600131
Febrile Seizures, Familial, 8
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within ... OMIM:607681
Developmental And Epileptic Encephalopathy 37
Spasticity, Chorea, Myoclonus, Cogwheel rigidity, Focal hemiclonic seizure, Rigidity, Hyperkineti... OMIM:616981
Vitamin D-Dependent Rickets, Type 3
Hypophosphatemia, Elevated circulating parathyroid hormone level, Hypocalcemia, Growth delay OMIM:619073
Progressive Myoclonic Epilepsy Type 3
Focal myoclonic seizure, Limb myoclonus, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:263516
Pontocerebellar Hypoplasia, Type 1E
EEG with burst suppression, Myoclonus, Respiratory failure requiring assisted ventilation OMIM:619303
Myoclonus, Familial, 1
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls OMIM:614937
Pyridoxal Phosphate-Responsive Seizures
Failure to thrive, Seizure, EEG with burst suppression, Myoclonus, Abnormal circulating arginine ... ORPHA:79096
Glut1 Deficiency Syndrome 1
Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, EEG abnormality, Ataxia, C... OMIM:606777
Intellectual Developmental Disorder, X-Linked 1
Bilateral tonic-clonic seizure, Seizure, Atonic seizure OMIM:309530
Glycine Encephalopathy 1
Hyperglycinemia, Myoclonus, Seizure, Agenesis of corpus callosum OMIM:605899
Developmental And Epileptic Encephalopathy 52
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Focal hemiclonic seizure,... OMIM:617350
Developmental And Epileptic Encephalopathy 71
EEG with burst suppression, Respiratory failure, Seizure, Respiratory insufficiency OMIM:618328
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Myoclonic seizure, Respiratory insufficiency, EEG with burst suppression, Myoclonus, Tonic seizur... OMIM:617290
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Increased LDL cholesterol concentration, Scoliosis, Elevated circulating creatine kinase concentr... OMIM:616516
Intellectual Developmental Disorder With Seizures And Language Delay
Myoclonic absence seizure, Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Increas... OMIM:619000
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Hyperleucinemia, Hyperammonemia, Decreased body weight, Hypervalinemia, Increa... OMIM:620085
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept... ORPHA:289266
Developmental And Epileptic Encephalopathy 106
Postnatal growth retardation, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral to... OMIM:620028
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Continuous spike and waves during slow sleep, EEG with generalized epileptiform discharges, Seizu... ORPHA:163721
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Myoclonic seizure, Generalized non-motor (absence) seizure, Generalized... OMIM:620166
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Myoclonus, Hyperkinetic movement... OMIM:614254
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Focal impaired awareness seizure, Seizure, Delayed menarche, Focal-onset seizure, Tremor, Bilater... ORPHA:330050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Spasticity, Amyotrophic lateral sclerosis, Tetraparesis, Fasciculations, Elevated circulating cre... OMIM:613954
Generalized Epilepsy With Febrile Seizures-Plus
Ataxia, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Febrile seizur... ORPHA:36387
Spinocerebellar Ataxia With Epilepsy
Dysdiadochokinesis, Myoclonus, EEG with occipital epileptiform discharges, Dysmetria, Gait ataxia... ORPHA:254881
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Myoclonus, Generalized myoclonic seizure, Seizure, Ataxia OMIM:208700
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,... ORPHA:79262
Developmental Delay With Or Without Epilepsy
Ataxia, EEG with frontal focal spikes, Spasticity, Myoclonic seizure, Spastic gait, Seizure, Gene... OMIM:620540
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Spasticity, Small for gestational age, Spastic tetraplegia, Lateral ventricle dilatation, Seizure... OMIM:619847
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, S... OMIM:619065
Developmental And Epileptic Encephalopathy 42
Ataxia, Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, EEG abnormality,... OMIM:617106
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620126
Linear Verrucous Nevus Syndrome
Hypophosphatemia, Scoliosis, Seizure ORPHA:2611
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Seizure, Short neck, Respiratory insufficiency due to mus... OMIM:611890
Ceroid Lipofuscinosis, Neuronal, 5
Seizure, Abnormal nervous system electrophysiology, Myoclonus, Dysmetria, Clumsiness, Limb tremor... OMIM:256731
Pontocerebellar Hypoplasia, Type 15
Spastic tetraplegia, Myoclonic seizure, Infantile spasms, Agenesis of corpus callosum, Bilateral ... OMIM:619302
Myoclonus-Dystonia Syndrome
Myoclonus, Limb myoclonus, Torticollis, Spinal myoclonus ORPHA:36899
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Hyperaldosteronism, Hyperkalemia, Hyponatremia, Increased circulating renin level OMIM:620125
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Rigidity, Elevated circulating creatine kinase concentration, Hyperton... OMIM:613869
D-Glyceric Aciduria
Spasticity, Spastic tetraplegia, Neonatal respiratory distress, Failure to thrive, Seizure, Focal... OMIM:220120
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Hypocalcemia, Hepatic steatosis, Splenomegaly, Hypercholesterolemia, Short st... OMIM:612526
Chylomicron Retention Disease
Hypoalbuminemia, Hypotriglyceridemia, Failure to thrive, Hypocholesterolemia, Decreased LDL chole... OMIM:246700
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Seizure, Hypomagnesemia, Hyperaldosteronism, Intention tremor, Hypokalemia, Ataxia, Short stature... OMIM:612780
Hyperaldosteronism, Familial, Type Ii
Hyperaldosteronism, Hypokalemia OMIM:605635
Pseudohypoparathyroidism Type 2
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Hypocalcemic tetany, Hypocalce... ORPHA:94090
Developmental And Epileptic Encephalopathy 23
Infantile spasms, Myoclonus, Tonic seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Atoni... OMIM:615859
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Small for gestational age, Seizure, Short stature, Kyphosis ORPHA:85288
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Parkinson... OMIM:605407
Developmental And Epileptic Encephalopathy 92
Spasticity, Seizure, Myoclonus, EEG abnormality, Ataxia OMIM:617829
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Seizure, Epileptic spasm, EEG with burst suppression, Myoclonus, Ataxia, Erratic myoclonus, Spast... OMIM:619971
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Hyperaldosteronism, Hypokalemia, Hyponatremia, Hyperactive renin-angiotensin s... OMIM:214700
Clcn4-Related X-Linked Intellectual Disability Syndrome
Upper limb spasticity, Seizure, Generalized non-motor (absence) seizure, Chorea, Infantile spasms... ORPHA:485350
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ataxia, Neonatal respiratory distress, Lateral ventricle dilatation, Seizure, EEG with generalize... ORPHA:79243
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus, Seizure OMIM:217200
Spinocerebellar Ataxia 20
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor OMIM:608687
Congenital Disorder Of Glycosylation, Type Il
Hypoalbuminemia, Failure to thrive, Seizure, Hypocholesterolemia, Splenomegaly, Short neck, Hepat... OMIM:608776
Smith-Magenis Syndrome
Abnormal nerve conduction velocity, Seizure, Abnormality of the thyroid gland, Increased body wei... OMIM:182290
Developmental Delay And Seizures With Or Without Movement Abnormalities
Myoclonic absence seizure, Tremor, Rigidity, EEG abnormality, Bilateral tonic-clonic seizure, Ata... OMIM:617836
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizu... OMIM:619157
Developmental And Epileptic Encephalopathy 63
Myoclonic seizure, EEG with generalized epileptiform discharges, Seizure, Cerebral palsy, General... OMIM:617976
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seizure, Bilateral tonic... OMIM:618141
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Respiratory failure, Elevated circulating creatine kinase concentration ORPHA:266
Pontocerebellar Hypoplasia, Type 14
Spastic tetraplegia, Myoclonic seizure, Infantile spasms, Agenesis of corpus callosum, Bilateral ... OMIM:619301
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Focal hemiclonic s... OMIM:619606
Intellectual Developmental Disorder, Autosomal Dominant 5
Myoclonic absence seizure, Seizure, EEG abnormality, Bilateral tonic-clonic seizure, Torticollis OMIM:612621
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive gait ataxia, Myoclonus, Intention tremor, Progressive cerebellar ataxia ORPHA:2589
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Respiratory insufficiency, Pancytopenia, Leukopenia, Hyperuric... OMIM:613845
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Hypothyroidism, Myoclonus, Tremor, Frequent falls OMIM:619647
Coronary Artery Disease, Autosomal Dominant 2
Increased LDL cholesterol concentration, Type II diabetes mellitus, Hypertriglyceridemia OMIM:610947
Hyperlipoproteinemia, Type Ii, And Deafness
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:144300
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Seizures, Benign Familial Infantile, 1
Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with ... OMIM:601764
Bilateral Generalized Polymicrogyria
Spasticity, Generalized myoclonic seizure, Typical absence seizure, Lateral ventricle dilatation,... ORPHA:208447
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Decreased cervical spine mobility, Elevated circulating creatine kinas... ORPHA:370968
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Kyphosis, Seizure, Myoclonus, Splenomegaly, Short stature, Ataxia, Hepatomegaly, S... OMIM:230650
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Failure to thrive, Seizure, Myoclonus, Hypertonia, Anemia OMIM:610090
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Myoclonus, Failure to thrive, Tremor OMIM:619651
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Insulin-resistant diabetes mellitus, Hepatic steatosis, Hypertriglyceridemia, Primary gonadal ins... ORPHA:436182
Peho-Like Syndrome
Hypsarrhythmia, Myoclonus, Status epilepticus, Bilateral tonic-clonic seizure OMIM:617507
Hemophagocytic Lymphohistiocytosis, Familial, 3
Hemophagocytosis, Hepatosplenomegaly, Hypertriglyceridemia, Anemia, Granulocytopenia OMIM:608898
Fish-Eye Disease
Increased VLDL cholesterol concentration, Increased LDL cholesterol concentration, Decreased HDL ... OMIM:136120
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Failure to thrive, Seizure, Generalized-onset seizure, Hemiparesis, EEG abnormality, Bilateral to... OMIM:604317
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Myoclonic seizure, Seizure, Epileptic spasm, Myoclonus, Hyperkinetic movements, Tonic seizure, Bi... OMIM:618497
Myoclonic-Atonic Epilepsy
Ataxia, Myoclonic seizure, Generalized non-motor (absence) seizure, Tremor, Atonic seizure, Eyeli... OMIM:616421
Obesity Due To Melanocortin 4 Receptor Deficiency
Hyperinsulinemia, Obesity, Type II diabetes mellitus, Childhood-onset truncal obesity, Hypertrigl... ORPHA:71529
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Tonic seizure, Respiratory failure, Hypertonia, Respiratory insufficiency OMIM:611722
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Seizure, Myoclonus, EEG abnormality, Ataxia, Vacuolated lymphocytes OMIM:256730
Epilepsy, Familial Adult Myoclonic, 7
Seizure, Myoclonic tremor OMIM:618075
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Spasticity, Failure to thrive, Seizure, Generalized-onset seizure, Hypomethioninemia, Megaloblast... OMIM:250940
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Seizure ORPHA:208441
Juvenile Myoclonic Epilepsy
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... ORPHA:307
Rajab Interstitial Lung Disease With Brain Calcifications 2
Hypoalbuminemia, Hypopituitarism, Microcytic anemia, Hepatosplenomegaly, Hepatic steatosis, Hypot... OMIM:619013
Late-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Hyponatremia, Decreased circulating aldosterone ... ORPHA:556037
Pontocerebellar Hypoplasia Type 4
Hypertonia, Myoclonus, Seizure, Respiratory failure requiring assisted ventilation ORPHA:166063
Mitochondrial Complex I Deficiency, Nuclear Type 12
Seizure, Myoclonus, Bilateral tonic-clonic seizure, Ataxia, Frequent falls, Generalized myoclonic... OMIM:301020
Pontocerebellar Hypoplasia, Type 4
Spasticity, Seizure, Myoclonus, Hypertonia, Respiratory failure OMIM:225753
Congenital Disorder Of Glycosylation, Type Iiy
Scoliosis, Status epilepticus, Bilateral tonic-clonic seizure, Agenesis of corpus callosum OMIM:620200
Developmental And Epileptic Encephalopathy 32
Myoclonic seizure, EEG with spike-wave complexes (2.5-3.5 Hz), Seizure, Febrile seizure (within t... OMIM:616366
Ullrich Congenital Muscular Dystrophy
Elevated circulating creatine kinase concentration, Respiratory failure, Short neck, Torticollis,... ORPHA:75840
Developmental And Epileptic Encephalopathy 103
Ataxia, Spastic tetraplegia, Myoclonic seizure, Continuous spike and waves during slow sleep, Gen... OMIM:619913
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Hemophagocytic Lymphohistiocytosis, Familial, 2
Hemophagocytosis, Hepatosplenomegaly, Pancytopenia, Tetraplegia, Ataxia, Hepatomegaly, Jaundice, ... OMIM:603553
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Seizure, Generalized-onset seizure, Interictal EEG abnormality, Chorea, Myocl... ORPHA:79263
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Ataxia, Chorea, Tremor, Hyperkinetic movements, Torticollis, Bilateral tonic-clonic seizure OMIM:618425
Spinocerebellar Ataxia 38
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia OMIM:615957
Lissencephaly 3
Seizure, Agenesis of corpus callosum, Generalized tonic seizure, Bilateral tonic-clonic seizure, ... OMIM:611603
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Postnatal growth retardation, Hyponatremia, Decreased circulating aldosterone ... ORPHA:556030
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Abnormal circulating creatine kinase concentration, Chorea, Hepatic steatosis, Hyperlordosis, Bil... ORPHA:369840
Pontocerebellar Hypoplasia, Type 1C
Tongue fasciculations, Failure to thrive, Respiratory insufficiency, Spastic tetraparesis, Respir... OMIM:616081
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Frequent falls, Elevated circulating creatine kinase concentration, Short neck, Hyperlordosis, Re... OMIM:300718
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Spasticity, Seizure, Dysplastic corpus callosum, Bilateral tonic-clonic seizure, Ataxia OMIM:620317
Dentatorubral-Pallidoluysian Atrophy
Seizure, Chorea, Myoclonus, Parkinsonism, Ataxia, Choreoathetosis OMIM:125370
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Myoclonus, Tremor, Dysmetria, Babinski sign, Atonic seizure, Generalized myoclonic seizure OMIM:612437
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease
Hemophagocytosis, Increased circulating ferritin concentration, Hepatosplenomegaly, Splenomegaly,... OMIM:613101
Glycogen Storage Disease Ixa1
Splenomegaly, Hyperuricemia, Hypercholesterolemia, Hypertriglyceridemia, Hepatomegaly, Growth delay OMIM:306000
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction ORPHA:401901
Glycosylphosphatidylinositol Biosynthesis Defect 15
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Gait ataxia, Dysmetria, T... OMIM:617810
Encephalitis, Acute, Infection-Induced, Susceptibility To, 12
Clonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure OMIM:620461
Alg1-Cdg
Hypoalbuminemia, Kyphosis, Seizure, Scoliosis, Respiratory failure ORPHA:79327
Cystinosis
Type I diabetes mellitus, Failure to thrive, Portal hypertension, Hypokalemia, Hypophosphatemia, ... ORPHA:213
Dystonia 11, Myoclonic
Myoclonus, Tremor, Torticollis OMIM:159900
Temple Syndrome
Precocious puberty, Maturity-onset diabetes of the young, Obesity, Intrauterine growth retardatio... OMIM:616222
Unilateral Focal Polymicrogyria
EEG with frontal focal spikes, Seizure, Abnormality of somatosensory evoked potentials, Bilateral... ORPHA:268947
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Neonatal respiratory distress, Failure to thrive, Seizure, Respiratory insufficiency, Decreased n... OMIM:618356
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Abnormal lateral ventricle morphology, Intrauterine growth retardation, Gait ataxia, Bil... ORPHA:488635
Lymphoproliferative Syndrome, X-Linked, 2
Aplastic anemia, Hemophagocytosis, Hepatitis, Increased circulating ferritin concentration, Pancy... OMIM:300635
Combined Oxidative Phosphorylation Deficiency 27
Failure to thrive, Tetraparesis, Chorea, Myoclonus, Hyperammonemia, Microvesicular hepatic steato... OMIM:616672
Developmental And Epileptic Encephalopathy 16
Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis, Clonic seizure, Status epil... OMIM:615338
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hypomagnesemia, Hyperaldosteronism, Hypocalcemic tetany, Hypocalcemia, Hyperkinetic movements, He... ORPHA:73224
Citrullinemia Type Ii
Hypoalbuminemia, Hepatic fibrosis, Decreased body mass index, Seizure, Decreased HDL cholesterol ... ORPHA:247585
Developmental And Epileptic Encephalopathy 41
Spasticity, Myoclonic seizure, Tetraparesis, Epileptic spasm, Kyphoscoliosis, Status epilepticus ... OMIM:617105
Myoclonus, Familial, 2
Limb myoclonus, Seizure OMIM:618364
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Increased circulating free fatty acid level, Seizure, Hepatic steatosis, Hepatomegaly, Hypophosph... OMIM:605911
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Failure to thrive, Intrauterine growth retardation, Bilateral tonic-clonic seizure, Spa... OMIM:618237
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Absent pubertal growth spurt, Kyphosis, Focal myoclonic seizure, Seizure, Progressive... ORPHA:464282
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure ORPHA:79137
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Elevated circulating thyroid-stimulating hormone ... OMIM:612462
Atypical Rett Syndrome
Spasticity, Involuntary movements, Neonatal seizure, Limb myoclonus, Seizure, Pill-rolling tremor... ORPHA:3095
Developmental And Epileptic Encephalopathy 1
Growth delay, EEG with burst suppression, Infantile spasms, Focal-onset seizure, Tonic seizure, A... OMIM:308350
Ceroid Lipofuscinosis, Neuronal, 3
Seizure, Myoclonus, Abnormality of extrapyramidal motor function, Parkinsonism, Bilateral tonic-c... OMIM:204200
Corticosterone Methyloxidase Type Ii Deficiency
Increased circulating 18-hydroxycortisone level, Failure to thrive, Hyponatremia, Increased circu... OMIM:610600
Paternal Uniparental Disomy Of Chromosome 1
Seizure, Obesity, Myoclonus, Delayed puberty, Increased blood urea nitrogen, Episodic hemolytic a... ORPHA:251004
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Short stature, Bilateral tonic-clonic seizure OMIM:617862
Benign Familial Neonatal-Infantile Seizures
Continuous spike and waves during slow sleep, Neonatal seizure, Episodic ataxia, Focal clonic sei... ORPHA:140927
Hyperaldosteronism, Familial, Type Iii
Hyperaldosteronism, Hypokalemia, Adrenal hyperplasia, Decreased circulating renin level OMIM:613677
Myoclonus, Cerebellar Ataxia, And Deafness
Myoclonus, Ataxia OMIM:159800
Sulfite Oxidase Deficiency, Isolated
Hemiplegia, Elevated circulating creatine kinase concentration, Bilateral tonic-clonic seizure, A... OMIM:272300
Polymyoclonus, Infantile
Myoclonus, Ataxia OMIM:263550
Microcephaly, Congenital Cataract, And Psoriasiform Dermatitis
Failure to thrive, Hypocholesterolemia, Decreased LDL cholesterol concentration, Delayed puberty,... OMIM:616834
Posttransplant Acute Limbic Encephalitis
EEG with abnormally slow frequencies, Seizure, Myoclonus, Hyponatremia, Ataxia, EEG with focal ep... ORPHA:163921
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Spasticity, Myoclonic seizure, Typical absence seizure, Seizure, EEG with generalized slo... ORPHA:168491
Creutzfeldt-Jakob Disease
Extrapyramidal muscular rigidity, Gait ataxia, Myoclonus, Hemiparesis OMIM:123400
Immunodeficiency 54
Reduced natural killer cell count, Failure to thrive, Respiratory insufficiency, Postnatal growth... OMIM:609981
Epilepsy, Progressive Myoclonic, 12
Myoclonus, Bilateral tonic-clonic seizure OMIM:619191
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Seizure, Hypomagnesemia, Hypocalcemia, Hypokalemia, Short stature, Decreased c... OMIM:601198
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Cirrhosis, Hypercholesterolemia, Hypertriglyceridemia, Hepat... ORPHA:75234
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
EEG with abnormally slow frequencies, Spasticity, Failure to thrive, Seizure, Chorea, Hepatic ste... ORPHA:70472
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Focal-onset seizure, Ankle clonus, Babinski sign, Hypothyroidism, Hyp... OMIM:301058
Hepatic Veno-Occlusive Disease
Increased total bilirubin, Increased body weight, Hepatomegaly, Jaundice, Respiratory failure ORPHA:890
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Spasticity, Myoclonic seizure, Spastic tetraplegia, Seizure, Generalized non-motor (absence) seiz... OMIM:619616
Brain Small Vessel Disease 2
Growth delay, Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Myoclonic seizure, Seizure, Myoclonus, Ataxia, Increased serum pyruvate OMIM:618225
Hsd10 Disease
Spastic paraparesis, Seizure, Postnatal growth retardation, Myoclonus, Tremor, Rigidity, Ataxia, ... ORPHA:391417
Epilepsy, Familial Adult Myoclonic, 2
Blepharospasm, EEG with irregular generalized spike and wave complexes, Jerk-locked premyoclonus ... OMIM:607876
Hereditary Hypophosphatemic Rickets With Hypercalciuria
Increased circulating beta-C-terminal telopeptide concentration, Growth delay, Hypophosphatemic r... ORPHA:157215
Striatonigral Degeneration, Infantile, Mitochondrial
Poor motor coordination, Incoordination, Chorea, Myoclonus, Babinski sign, Clonus, Paroxysmal cho... OMIM:500003
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Respiratory failure, Elevated circulating creatine kinase concentration OMIM:604801
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Spasticity, Focal impaired awareness seizure, Seizure, Chorea, Hypothyroidism, EEG abnormality, B... OMIM:613970
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, S... OMIM:609446
Dystonia 3, Torsion, X-Linked
Chorea, Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Tremor OMIM:314250
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Cholesterol-Ester Transfer Protein Deficiency
Hypotriglyceridemia, Increased HDL cholesterol concentration, Hyperlipidemia, Hyperlipoproteinemi... ORPHA:79506
Hypocalcemic Vitamin D-Dependent Rickets
Hypochromic anemia, Elevated circulating parathyroid hormone level, Failure to thrive, Postnatal ... ORPHA:289157
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome
Seizure, Increased circulating ferritin concentration, Head titubation, Absent brainstem auditory... ORPHA:3240
Dent Disease 2
Short stature, Hypophosphatemia, Elevated circulating creatine kinase concentration OMIM:300555
Cockayne Syndrome Type 1
Male hypogonadism, Failure to thrive, Seizure, Postnatal growth retardation, Abnormality of perip... ORPHA:90321
Multiple Mitochondrial Dysfunctions Syndrome 1
Facial paralysis, Failure to thrive, Respiratory insufficiency, Hyperglycinemia, Myoclonus, Abnor... OMIM:605711
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Elevated circulating parathyroid hormone level, Failure to thrive, Hypocalcemia, Hypophosphatemia... OMIM:264700
Neurodevelopmental Disorder With Involuntary Movements
Spasticity, Involuntary movements, Chorea, Infantile spasms, Hyperkinetic movements, Bilateral to... OMIM:617493
Bartter Syndrome, Type 1, Antenatal
Hyperparathyroidism, Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational ag... OMIM:601678
Andersen-Tawil Syndrome
Growth delay, Periodic hypokalemic paresis, Seizure, Hyperaldosteronism, Periodic hyperkalemic pa... ORPHA:37553
Hyperaldosteronism, Familial, Type Iv
Hyperaldosteronism, Elevated aldosterone:renin ratio OMIM:617027
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory insufficiency, Generalized-onset seizure, Failure to thrive in infancy, Respiratory i... ORPHA:254875
Hereditary Geniospasm
Chin myoclonus ORPHA:53372
Dystonia 23
Head tremor, Myoclonus, Torticollis OMIM:614860
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hypertriglyceridemia, Hepatic steatosis, Abnormal circulating... ORPHA:280356
Mitochondrial Complex I Deficiency, Nuclear Type 13
Spasticity, Decreased circulating carnitine concentration, Failure to thrive, Bilateral tonic-clo... OMIM:618235
Multiple Mitochondrial Dysfunctions Syndrome 3
Seizure, Respiratory insufficiency, Intrauterine growth retardation, Hyperglycinemia, Respiratory... OMIM:615330
Hypercalcemia, Infantile, 2
Hypophosphatemia, Hypercalcemia, Failure to thrive OMIM:616963
Huntington Disease
Involuntary movements, Decreased body mass index, Abnormal circulating cholesterol concentration,... ORPHA:399
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Focal sensory seizure with somatosensory features, Continuous spike... ORPHA:1929
Squalene Synthase Deficiency
Seizure, Failure to thrive in infancy, Hypocholesterolemia, Intrauterine growth retardation, Decr... OMIM:618156
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis, Seizure ORPHA:2744
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Adrenal calcification, Increased LDL cholesterol concentration, Hepato... OMIM:278000
Oculocerebrorenal Syndrome Of Lowe
Hypophosphatemia, Clonus, Respiratory insufficiency, Anemia, Platyspondyly, Hyperparathyroidism, ... ORPHA:534
Immunodeficiency 109 With Lymphoproliferation
Pancytopenia, Splenomegaly, Generalized lymphadenopathy, Absent circulating B cells, Hypertriglyc... OMIM:620282
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atonic seizure, Focal imp... ORPHA:382
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Seizure, Respiratory insufficiency, Hyperglycinemia, Myoclonus, Abnormality of extrap... OMIM:614299
Hypertriglyceridemia 1
Hypopituitarism, Increased VLDL cholesterol concentration, Hypertriglyceridemia OMIM:145750
Familial Hyperaldosteronism Type I
Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteronism, Adrenal ... ORPHA:403
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Seizure, Myoclonus, Babinski sign, Apraxia, EEG abnormality OMIM:618193
Non-Specific Early-Onset Epileptic Encephalopathy
Spasticity, Involuntary movements, Failure to thrive, Seizure, Abnormality of coordination, Myocl... ORPHA:442835
Cataracts, Spastic Paraparesis, And Speech Delay
Bilateral tonic-clonic seizure, Complex febrile seizure, Focal motor seizure, Generalized non-mot... OMIM:619338
Autosomal Recessive Frontotemporal Pachygyria
Bilateral tonic-clonic seizure, Seizure ORPHA:329329
Hypercholesterolemia, Familial, 4
Decreased LDL cholesterol concentration, Hypercholesterolemia, Hypertriglyceridemia OMIM:603813
Hypoparathyroidism, Familial Isolated, 2
Hyperphosphatemia, Hypocalcemic seizures, Decreased circulating parathyroid hormone level, Hypoca... OMIM:618883
X-Linked Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kinase ... ORPHA:98863
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Seizure, Obesity, Scheuermann-like vertebral changes, Delayed pub... OMIM:301900
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spasticity, Spastic paraparesis, Dysdiadochokinesis, Myoclonus, Dysmetria, Oculomotor apraxia, EE... ORPHA:313772
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Large for gestational age, Obesity, Bilateral tonic-clonic seizure, Truncal obesity, Hypoinsulinemia OMIM:240900
D-Glyceric Aciduria
Increased circulating free fatty acid level, Spasticity, Seizure, Chorea, Hyperglycinemia, Myoclo... ORPHA:941
Familial Hyperaldosteronism Type Ii
Secretory adrenocortical adenoma, Adrenal hyperplasia, Hypokalemia, Abnormal circulating renin, G... ORPHA:404
Pearson Syndrome
Postnatal growth retardation, Pancytopenia, Hepatic steatosis, Hypophosphatemia, Neutropenia, Ata... ORPHA:699
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Short stature, Hyperammonemia, Bilateral tonic-clonic seizure, Elevated circulating creatine kina... OMIM:618120
Amyotrophic Lateral Sclerosis 28
Babinski sign, Chaddock reflex, Respiratory failure, Fasciculations OMIM:620452
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Elevated amniotic fluid alpha-fetoprotein, Undetectable visual evoked potentials, Intrauterine gr... ORPHA:423479
Vitamin D-Dependent Rickets, Type 2A
Elevated circulating parathyroid hormone level, Failure to thrive, Hypophosphatemia, Hypocalcemic... OMIM:277440
Pontocerebellar Hypoplasia Type 1
Tongue fasciculations, Spasticity, Failure to thrive, Seizure, Ataxia, Respiratory failure, Degen... ORPHA:2254
Childhood-Onset Spasticity With Hyperglycinemia
Spastic dysarthria, Myoclonus, Babinski sign, Hypertonia, Ataxia, Progressive spasticity, Nonketo... ORPHA:401866
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Failure to thrive, Seizure, Respiratory insufficiency, Myoclonus, Rigidity, EEG abnormality OMIM:300673
Combined Oxidative Phosphorylation Deficiency 28
Increased serum pyruvate, Respiratory failure OMIM:616794
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion
Increased circulating cortisol level, Decreased circulating renin level, Hypokalemia, Neoplasm of... ORPHA:231625
Alpers-Huttenlocher Syndrome
Spasticity, Spastic paraparesis, Myoclonus, Paraparesis, Bilateral tonic-clonic seizure, Ataxia, ... ORPHA:726
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Normochromic anemia, Hypertriglyceridemia OMIM:245900
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Sialidosis Type 1
Abnormal form of the vertebral bodies, Seizure, Decreased nerve conduction velocity, Myoclonus, S... ORPHA:812
Developmental And Epileptic Encephalopathy 102
Generalized myoclonic seizure, Tonic seizure, Focal emotional seizure with laughing, Bilateral to... OMIM:619881
Sandhoff Disease
Failure to thrive, Seizure, Splenomegaly, Ataxia, Hepatomegaly, Kyphosis ORPHA:796
Sarcosinemia
Ataxia, Tetraparesis, Bilateral tonic-clonic seizure, Hypersarcosinemia ORPHA:3129
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Hypophosphatemic rickets, Focal-onset seizure, Elevated circulating creatine kina... OMIM:619743
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Abnormal vertebral morphology, Failure to thrive, Seizure, Abnormality of the vertebral column, M... OMIM:250620
Smith-Magenis Syndrome
Precocious puberty, Abnormal form of the vertebral bodies, Seizure, Failure to thrive in infancy,... ORPHA:819
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Myoclonic seizure, Myoclonus, Gait ataxia, Tremor, Bilateral tonic-clonic seizure with generalize... OMIM:619092
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Hyperpho... ORPHA:94089
Maternal Uniparental Disomy Of Chromosome 4
Type I diabetes mellitus, Hypocholesterolemia, Postnatal growth retardation, Abnormal erythrocyte... ORPHA:96180
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Hyperphosphatemia, Seizure, Hypogonadism, Hypocal... OMIM:103580
Epilepsy, Familial Adult Myoclonic, 6
Myoclonic tremor OMIM:618074
Hemifacial Spasm, Familial
Hemifacial spasm OMIM:141405
Geniospasm 1
Chin myoclonus OMIM:190100
Lipase Deficiency, Combined
Pancreatitis, Type II diabetes mellitus, Hypertriglyceridemia OMIM:246650
Kohlschutter-Tonz Syndrome
Spasticity, Myoclonic seizure, Seizure, Hypsarrhythmia, Bilateral tonic-clonic seizure, Ataxia, F... OMIM:226750
Dystonia 6, Torsion
Myoclonus, Torticollis OMIM:602629
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Diffuse pancreatic islet hyperplasia, Increased circulating cortisol level, Seizure, Large for ge... ORPHA:79644
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Frequent falls, Elevated circulating creatine kinase concentration, Hyperlordosis, Vertebral fusi... OMIM:606612
Gaucher Disease, Type Iii
Spastic paraparesis, Pancytopenia, Myoclonus, Splenomegaly, Decreased body weight, Thrombocytopen... OMIM:231000
Spinocerebellar Ataxia Type 37
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis ORPHA:363710
Anemia, Sideroblastic, And Spinocerebellar Ataxia
Sideroblastic anemia, Pappenheimer bodies, Weight loss, Clonus, Poikilocytosis, Ataxia, Dysmetria... OMIM:301310
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Seizure, Obesity, Lumbar hyperlordosis, Lower limb spasticity, Ataxia, Short stature, S... OMIM:616756
Congenital Myopathy 14
Abnormal circulating creatine kinase concentration, Respiratory failure, Respiratory insufficienc... OMIM:618414
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Growth delay, Failure to thrive, Hypophosphatemic rickets, Hypophosphatemia, Abnormal circulating... OMIM:241530
Dystonia 15, Myoclonic
Myoclonus OMIM:607488
Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kinase ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Kyphosis, Increased LDL cholesterol concentration, Obesity, Elevated circulating creatine kinase ... ORPHA:98853
Mitochondrial Complex I Deficiency, Nuclear Type 19
Seizure, Respiratory insufficiency, Myoclonus, Rigidity, Athetosis, Scoliosis OMIM:618241
Hypophosphatemic Rickets, X-Linked Dominant
Elevated circulating parathyroid hormone level, Hepatosplenomegaly, Hypophosphatemic rickets, Hyp... OMIM:307800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Respiratory i... ORPHA:352447
Canavan Disease
Epileptic spasm, Opisthotonus, Abnormal pyramidal sign, Hypsarrhythmia, Bilateral tonic-clonic se... OMIM:271900
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Reduced natural killer cell count, Hemophagocytosis, Increased circulating ferritin concentration... ORPHA:158057
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1
Seizure, Microangiopathic hemolytic anemia, Elevated circulating creatinine concentration, Hyperl... OMIM:235400
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Epileptic spasm, Myoclonus, Decreased body weight, Hypsarrhythmia, Short stature OMIM:619060
Spinal Muscular Atrophy, Type I
Tongue fasciculations, Respiratory failure, Respiratory insufficiency OMIM:253300
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
EEG with parietal epileptiform discharges, Continuous spike and waves during slow sleep, Focal im... OMIM:619428
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation, Bilateral tonic-clonic seizure, Elevated hemoglobin A1c, Diabetes m... OMIM:619278
Fanconi-Bickel Syndrome
Growth delay, Failure to thrive, Abnormal hepatic glycogen storage, Increased hepatic glycogen co... ORPHA:2088
Mitochondrial Complex I Deficiency, Nuclear Type 31
Dysmetria, Myoclonus, Failure to thrive, Seizure OMIM:618251
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Lateral ventricle dilatation, Seizure, Abnormal upper motor neuron morphology, Myoclo... OMIM:221770
Hypoparathyroidism, Familial Isolated, 1
Hyperphosphatemia, Hypocalcemia, Hypoparathyroidism, Chvostek sign, Hypocalcemic seizures, Decrea... OMIM:146200
Coenzyme Q10 Deficiency, Primary, 9
Myoclonus, Tremor, Dysmetria, Bilateral tonic-clonic seizure with generalized onset, Lower limb s... OMIM:619028
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Severe short stature, Respiratory insufficiency, Thoracolumbar scoliosis, Respirat... OMIM:313420
Xp21 Deletion Syndrome
Spasticity, Seizure, Adrenal insufficiency, Primary adrenal insufficiency, Elevated circulating c... ORPHA:261476
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Seizure, Action tremor, Rigidity, Babinski sign, Parkinsonism, Apraxia, Bilateral ton... OMIM:300423
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Spastic paraplegia, Gait ataxia, Dysmetria, Short neck, Bilateral tonic-clonic seizure, Spastic g... OMIM:615031
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Myoclonus, Tremor, Generalized tonic seizure, Abnormal pyr... OMIM:612016
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency
Short stature, Hyperuricemia, Hyperlipidemia, Seizure ORPHA:364
Juvenile Huntington Disease
Seizure, Chorea, Myoclonus, Gait ataxia, Rigidity, Weight loss, Ataxia, Bradykinesia, Progressive... ORPHA:248111
Cdkl5-Deficiency Disorder
Kyphosis, Growth delay, Infantile spasms, Generalized tonic seizure, Multifocal epileptiform disc... ORPHA:505652
Ceroid Lipofuscinosis, Neuronal, 10
Spasticity, Myoclonic seizure, Seizure, Respiratory insufficiency, Rigidity, Ataxia, Respiratory ... OMIM:610127
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Spasticity, Seizure, Hypocholesterolemia, Dysplastic corpus callosum, Hepatomegaly OMIM:618810
Developmental And Epileptic Encephalopathy 28
Ataxia, Spasticity, Seizure, Generalized non-motor (absence) seizure, Focal clonic seizure, Epile... OMIM:616211
Hereditary Butyrylcholinesterase Deficiency
Paralysis, Abnormality of the liver, Respiratory failure, Respiratory failure requiring assisted ... ORPHA:132
Bile Acid Synthesis Defect, Congenital, 1
Intrahepatic cholestasis, Giant cell hepatitis, Failure to thrive, Hypocholesterolemia, Splenomeg... OMIM:607765
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Failure to thrive, Respiratory insufficiency, Intrauterine growth ... OMIM:245400
Citrullinemia, Type Ii, Neonatal-Onset
Hypermethioninemia, Intrahepatic cholestasis, Portal fibrosis, Growth delay, Failure to thrive, D... OMIM:605814
Reni Syndrome
Hypoalbuminemia, Ataxia, Seizure, Hypogonadism, Lymphopenia, Adrenal insufficiency, Hypothyroidis... OMIM:617575
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Infantile spasms, Bilateral tonic-clonic seizure OMIM:618470
Spinocerebellar Ataxia 48
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Cachexia, Parkinsonism, Bilateral tonic-cl... OMIM:618093
Alexander Disease Type I
Spasticity, Failure to thrive, Seizure, Cachexia, Abnormal pyramidal sign, Ataxia, Scoliosis, Pal... ORPHA:363717
Developmental And Epileptic Encephalopathy 47
Limb ataxia, Focal-onset seizure, Tonic seizure, Hypsarrhythmia, EEG abnormality, Bilateral tonic... OMIM:617166
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Hypocalcemic Vitamin D-Resistant Rickets
Hyperparathyroidism, Abnormal form of the vertebral bodies, Hypocalcemia, Hypophosphatemia, Short... ORPHA:93160
Mccune-Albright Syndrome
Precocious puberty, Bone marrow hypocellularity, Increased circulating cortisol level, Increased ... ORPHA:562
Ectopic Aldosterone-Producing Tumor
Hypokalemia, Decreased circulating renin level, Glucocortocoid-insensitive primary hyperaldostero... ORPHA:231632
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Myoclonus, Abnormality of extrapyramidal motor function, Babinski sign, Abnormal pyra... ORPHA:204
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness
Hyperchloriduria, Failure to thrive, Hyperaldosteronism, Hyponatremia, Hypokalemia, Hypochloremia OMIM:613090
Developmental And Epileptic Encephalopathy 31B
Involuntary movements, Myoclonic seizure, Failure to thrive, Seizure, Infantile spasms, Myoclonus... OMIM:620352
Primary Unilateral Adrenal Hyperplasia
Hypokalemia, Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decrease... ORPHA:231580
Developmental And Epileptic Encephalopathy 66
Myoclonic seizure, Seizure, Focal clonic seizure, Focal-onset seizure, Generalized tonic seizure,... OMIM:618067
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemia, Hypophosphatemic rickets OMIM:241520
Dk1-Cdg
Failure to thrive, Seizure, Infantile spasms, Hypsarrhythmia, Bilateral tonic-clonic seizure, EEG... ORPHA:91131
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young
Hypouricemia, Large for gestational age, Hypophosphatemia, Short stature, Hepatomegaly, Diabetes ... OMIM:616026
Bartter Syndrome, Type 2, Antenatal
Hyperchloriduria, Increased serum prostaglandin E2, Small for gestational age, Seizure, Hypomagne... OMIM:241200
Valinemia
Hyperkinetic movements, Hypervalinemia, Failure to thrive OMIM:277100
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Elevated circulating acylcarnitine concentration, Spasticity, Failure to thrive, Abnormal circula... OMIM:615838
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency
Cholestasis, Increased LDL cholesterol concentration, Hyperbilirubinemia, Hyperthreoninemia, Hepa... ORPHA:247598
Riboflavin Transporter Deficiency
Seizure, Respiratory insufficiency, Hypogonadism, Myoclonus, Tremor, Cachexia, Ataxia, Diabetes i... ORPHA:97229
Coenzyme Q10 Deficiency, Primary, 3
Hypoalbuminemia, Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Familial Infantile Myoclonic Epilepsy
Ataxia, Blepharospasm, Limb myoclonus, Seizure, Interictal EEG abnormality, Focal-onset seizure, ... ORPHA:352582
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Gait ataxia, Dysmetria, Rigidity, Tremor, Tonic seizure, Bilateral tonic-clonic seizure, Generali... OMIM:618090