| Mental Retardation, Autosomal Recessive 2 |
|
Seizure, Attention deficit hyperactivity disorder |
OMIM:607417 |
| Mental Retardation, Autosomal Dominant 45 |
|
Seizure, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:617600 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Seizure, Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:301008 |
| Attention Deficit-Hyperactivity Disorder |
|
Attention deficit hyperactivity disorder, Hyperactivity |
OMIM:143465 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Seizure, Attention deficit hyperactivity disorder |
OMIM:245570 |
| Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Impaired vibratory sensation,... |
DECIPHER:29 |
| Mental Retardation, Autosomal Recessive 54 |
|
Hyperactivity |
OMIM:617028 |
| Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
| Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Polyneuritis, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:162600 |
| Cataract 1, Multiple Types |
|
Developmental cataract, Pulverulent cataract, Nuclear cataract, Posterior subcapsular cataract, M... |
OMIM:116200 |
| Cataract 41 |
|
Developmental cataract, Nuclear cataract |
OMIM:116400 |
| Hypertrophic Neuropathy And Cataract |
|
Cataract, Distal sensory impairment |
OMIM:239900 |
| Cataract 8, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:115665 |
| Cataract 22, Multiple Types |
|
Developmental cataract, Nuclear cataract |
OMIM:609741 |
| Hyperferritinemia With Or Without Cataract |
|
Pulverulent cataract, Nuclear cataract |
OMIM:600886 |
| Chronic Inflammatory Demyelinating Polyneuropathy |
|
Sensory ataxia, Paresthesia, Spontaneous pain sensation, Motor conduction block, Abnormal nerve c... |
ORPHA:2932 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
| Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Axonal loss, Peripheral hypomyelination, Onion bulb fo... |
OMIM:611228 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Decr... |
OMIM:607734 |
| Developmental And Epileptic Encephalopathy 43 |
|
Seizure, Ataxia, Hyperactivity |
OMIM:617113 |
| Cataract 17, Multiple Types |
|
Microcornea, Developmental cataract, Pulverulent cataract, Nuclear cataract |
OMIM:611544 |
| Cataract 15, Multiple Types |
|
Developmental cataract, Nuclear cataract, Cataract, Lamellar cataract, Cortical cataract |
OMIM:615274 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Onion bulb formation, Dist... |
OMIM:601098 |
| 22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
| Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy, Im... |
OMIM:610100 |
| Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
| Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
| Cataract 20, Multiple Types |
|
Cataract, Membranous cataract |
OMIM:116100 |
| Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
| Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Seizure, Attention deficit hyperactivity disorder |
OMIM:617787 |
| Mental Retardation, X-Linked 77 |
|
Febrile seizure (within the age range of 3 months to 6 years), Hyperactivity |
OMIM:300454 |
| Cataract 5, Multiple Types |
|
Anterior polar cataract, Pulverulent cataract, Nuclear cataract, Lamellar cataract, Zonular cataract |
OMIM:116800 |
| Paroxysmal Nonkinesigenic Dyskinesia 2 |
|
Seizure, Paroxysmal dystonia |
OMIM:611147 |
| Cataract 10, Multiple Types |
|
Developmental cataract, Zonular cataract, Posterior Y-sutural cataract |
OMIM:600881 |
| Developmental And Epileptic Encephalopathy 56 |
|
Ataxia, Seizure, Status epilepticus, Attention deficit hyperactivity disorder, Broad-based gait |
OMIM:617665 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal sensory seizure with olfactory features, Focal automatism seizure, Focal aware sensory seiz... |
OMIM:600512 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Arrhythmia, Distal sensory impairment, Peripheral demyelination |
ORPHA:99944 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract, Ataxia |
ORPHA:1397 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:608762 |
| Mental Retardation, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
| Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of large p... |
OMIM:615376 |
| Epilepsy, Familial Temporal Lobe, 5 |
|
Visually-induced seizure, Focal aware seizure, Focal impaired awareness seizure, Bilateral tonic-... |
OMIM:614417 |
| Seizures, Benign Familial Neonatal, 2 |
|
Focal clonic seizure, Bilateral tonic-clonic seizure |
OMIM:121201 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Sensory ataxia, Decreased sensory nerve conduction vel... |
ORPHA:101081 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Peripheral axonal neuropathy, Distal sensory im... |
OMIM:608673 |
| Cataract 3, Multiple Types |
|
Sutural cataract, Developmental cataract, Cerulean cataract, Nuclear pulverulent cataract |
OMIM:601547 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... |
OMIM:118210 |
| Null Syndrome |
|
Peripheral demyelination, Demyelinating peripheral neuropathy, Ataxia, Decreased nerve conduction... |
ORPHA:280234 |
| Intellectual Developmental Disorder With Short Stature And Behavioral Abnormalities |
|
Seizure, Status epilepticus, Attention deficit hyperactivity disorder, Gait ataxia |
OMIM:618687 |
| Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
| Cataract 35 |
|
Cataract |
OMIM:609376 |
| Cataract 36 |
|
Cataract |
OMIM:613887 |
| Cataract 29 |
|
Cataract |
OMIM:115800 |
| Cataract 18 |
|
Cataract |
OMIM:610019 |
| Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
| Mental Retardation, Autosomal Dominant 52 |
|
Seizure, Hyperactivity |
OMIM:617796 |
| Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:611364 |
| Cataract 2, Multiple Types |
|
Developmental cataract, Microcornea, Nuclear cataract |
OMIM:604307 |
| Autism, Susceptibility To, 20 |
|
Attention deficit hyperactivity disorder |
OMIM:618830 |
| Seizures, Benign Familial Infantile, 5 |
|
Bilateral tonic-clonic seizure |
OMIM:617080 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 12 |
|
Bilateral tonic-clonic seizure |
OMIM:614847 |
| Seizures, Benign Familial Neonatal, 3 |
|
Bilateral tonic-clonic seizure |
OMIM:608217 |
| Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination, Pain insensitivity, Impaired tactile sensation |
OMIM:147530 |
| Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials, Irregular myelin ... |
OMIM:601382 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Seizure, Focal sensory seizure, Focal sensory seizure with visual features, Bilateral tonic-cloni... |
OMIM:615400 |
| Cataract 19, Multiple Types |
|
Cortical pulverulent cataract |
OMIM:615277 |
| Spinocerebellar Atrophy With Pupillary Paralysis |
|
Spinocerebellar atrophy |
OMIM:183100 |
| Epilepsy, Familial Temporal Lobe, 8 |
|
Focal aware cognitive seizure with forced thinking, Focal aware sensory seizure with auditory fea... |
OMIM:616461 |
| Cataract 33, Multiple Types |
|
Lamellar cataract, Cortical cataract, Nuclear cataract |
OMIM:611391 |
| Cataract 40 |
|
Sutural cataract, Nuclear cataract |
OMIM:302200 |
| Febrile Seizures, Familial, 4 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Atonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic ... |
OMIM:609253 |
| X-Linked Endothelial Corneal Dystrophy |
|
Band keratopathy, Corneal opacity, Nuclear cataract, Abnormal corneal endothelium morphology |
ORPHA:293621 |
| Immunodeficiency 8 |
|
Hyperactivity |
OMIM:615401 |
| Cataract 30, Multiple Types |
|
Diffuse nuclear cataract, Posterior polar cataract, Pulverulent cataract |
OMIM:116300 |
| Epilepsy, Familial Temporal Lobe, 3 |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura |
OMIM:611630 |
| Cataract 21, Multiple Types |
|
Cortical pulverulent cataract, Microcornea, Iris coloboma, Cerulean cataract |
OMIM:610202 |
| Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
| Maturity-Onset Diabetes Of The Young, Type 3 |
|
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus |
OMIM:600496 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Sensory ataxia, Basal lamina onion bulb formation, Dec... |
OMIM:614895 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
| Intellectual Developmental Disorder, X-Linked 72 |
|
Seizure, Hyperactivity |
OMIM:300271 |
| Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Impa... |
OMIM:618912 |
| Microcephaly 25, Primary, Autosomal Recessive |
|
Attention deficit hyperactivity disorder |
OMIM:618351 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Gait ataxia, Decreased number of peripheral myelinated... |
OMIM:180800 |
| Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Decreased number of periph... |
OMIM:609311 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Seizure, Hyperactivity |
OMIM:300928 |
| Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Abno... |
OMIM:605253 |
| Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Nuclear cataract, Anterior subcapsular cataract |
OMIM:605387 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... |
OMIM:605588 |
| Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Bilateral tonic-clonic seizure, Myoclonus, Dysmetria, Attention defic... |
OMIM:619191 |
| Perioral Myoclonia With Absences |
|
Bilateral tonic-clonic seizure, Chin myoclonus, Generalized non-motor (absence) seizure, Falls, F... |
ORPHA:139426 |
| Periventricular Nodular Heterotopia 8 |
|
Seizure, Attention deficit hyperactivity disorder |
OMIM:618185 |
| Developmental And Epileptic Encephalopathy 9 |
|
Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Generali... |
OMIM:300088 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Peripheral hypomyelination, Decreased motor nerve conduction velocity, Axonal regeneration, Decre... |
OMIM:605285 |
| Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Morn... |
OMIM:254770 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Se... |
OMIM:616685 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Generalized tonic seizure, Focal-o... |
OMIM:604403 |
| Mental Retardation, Autosomal Recessive 37 |
|
Seizure, Hyperactivity |
OMIM:615493 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2O |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:614228 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... |
OMIM:616172 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Generalized non-motor (absence) seizure, Atonic seizure, Febrile seizure (within the age range of... |
OMIM:604233 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607706 |
| Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... |
ORPHA:208981 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Atonic seizur... |
OMIM:613863 |
| Centralopathic Epilepsy |
|
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures |
OMIM:117100 |
| Progressive Familial Heart Block, Type Ia |
|
Complete heart block with broad QRS complexes, Left posterior fascicular block, Sudden cardiac de... |
OMIM:113900 |
| Myoclonic Epilepsy, Familial Infantile |
|
Focal-onset seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral ton... |
OMIM:605021 |
| Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea, Cataract |
OMIM:601372 |
| Familial Progressive Cardiac Conduction Defect |
|
Arrhythmia, Bundle branch block, Congestive heart failure, Heart block, Syncope |
ORPHA:871 |
| Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
Seizure, Hyperactivity |
ORPHA:436151 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Paresthesia |
ORPHA:640 |
| Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Gait ataxia, Decreased amplitude of sensory action potentials, Impaired vibration sensation at an... |
ORPHA:90103 |
| Epilepsy, Nocturnal Frontal Lobe, 2 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:603204 |
| Maturity-Onset Diabetes Of The Young, Type 10 |
|
Maturity-onset diabetes of the young, Diabetes mellitus, Hyperglycemia, Diabetic ketoacidosis |
OMIM:613370 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Demyelinating sensory neuropathy, Abnormal motor evoked potentials, Somatic sensory dysfunction, ... |
ORPHA:99939 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Basal lamina onion bulb formation, Peripheral hypomyel... |
OMIM:214400 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... |
OMIM:609260 |
| Retinal Dystrophy With Or Without Macular Staphyloma |
|
Nuclear cataract |
OMIM:617547 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Decreased number of periphe... |
OMIM:600882 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Axonal loss, Onion bulb formation, Abnormal auditory evoked potentials, Distal sensory impairment... |
OMIM:601455 |
| Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Seizure, Hyperactivity |
ORPHA:356996 |
| Seizures, Benign Familial Neonatal, 1 |
|
Focal clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral to... |
OMIM:121200 |
| Epilepsy, Idiopathic Generalized |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Generalized myoclonic se... |
OMIM:600669 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 11 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607628 |
| Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephaly |
|
Seizure, Hyperactivity, Inability to walk |
OMIM:616657 |
| Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired tactile sensati... |
ORPHA:99953 |
| Episodic Ataxia, Type 9 |
|
Dystonia, Episodic ataxia, Bilateral tonic-clonic seizure, Seizure, Clonic seizure, Status epilep... |
OMIM:618924 |
| Dwarfism, Mental Retardation, And Eye Abnormality |
|
Hypoplasia of the iris, Nuclear cataract |
OMIM:223540 |
| Hyperproinsulinemia |
|
Hyperglycemia, Hyperinsulinemia |
OMIM:616214 |
| Dravet Syndrome |
|
Generalized clonic seizure, Visually-induced seizure, Atonic seizure, Bilateral tonic-clonic seiz... |
OMIM:607208 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Somatic sensory dysfunction, Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased n... |
ORPHA:101082 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Limb ataxia, Gait ataxia, Cataract |
OMIM:617133 |
| Developmental And Epileptic Encephalopathy 11 |
|
Status epilepticus, Bilateral tonic-clonic seizure |
OMIM:613721 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal-onset seizure, Bilateral ton... |
OMIM:613060 |
| Epilepsy, Familial Temporal Lobe, 6 |
|
Febrile seizure (within the age range of 3 months to 6 years), Status epilepticus, Focal impaired... |
OMIM:615697 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Eyelid myoclonus, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:618357 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Abnormality of peripheral nerve conduction, Abnormal myelination, Optic atrophy |
ORPHA:431329 |
| Early-Onset X-Linked Optic Atrophy |
|
Dysdiadochokinesis, Gait ataxia, Decreased nerve conduction velocity, Optic atrophy, Choreoatheto... |
ORPHA:98890 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Sensory ataxia, Decreased motor nerve conduction velocity, Decreased number of peripheral myelina... |
OMIM:145900 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Axonal regeneration, Distal sensory impairment, Decrea... |
OMIM:607831 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:302801 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Decreased number of peripher... |
OMIM:118200 |
| Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures |
|
Cerulean cataract, Ataxia |
OMIM:616732 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:615127 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure |
OMIM:609800 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Gait ataxia, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:249900 |
| Lennox-Gastaut Syndrome |
|
Generalized tonic seizure, Focal-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure, F... |
ORPHA:2382 |
| Brugada Syndrome |
|
Ventricular arrhythmia, Sick sinus syndrome, Ventricular fibrillation, Supraventricular tachycard... |
ORPHA:130 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized clonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Genera... |
ORPHA:101039 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Seizure, Generalized non-motor (ab... |
OMIM:619157 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Abnorm... |
OMIM:601596 |
| Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Gait disturbance, Seizure, Dysmetria, Hyperactivity, Generalized myoclonic sei... |
OMIM:618090 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity |
OMIM:607678 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment |
OMIM:613287 |
| Developmental And Epileptic Encephalopathy 26 |
|
Atonic seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:616056 |
| Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
| Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Generalized... |
OMIM:607631 |
| Developmental And Epileptic Encephalopathy 94 |
|
Febrile seizure (within the age range of 3 months to 6 years), Visually-induced seizure, Atonic s... |
OMIM:615369 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:616230 |
| Charcot-Marie-Tooth Disease, Type 4B3 |
|
Onion bulb formation, Distal sensory impairment, Decreased nerve conduction velocity |
OMIM:615284 |
| Parkinsonism With Polyneuropathy |
|
Decreased compound muscle action potential amplitude, Decreased motor nerve conduction velocity, ... |
OMIM:619279 |
| X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Impaired vibration sensation in the lower limbs, Distal sensory impairment, Decreased nerve condu... |
ORPHA:352675 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure on awakening, Morning myo... |
OMIM:607682 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Dystonia, Ataxia, Bilateral tonic-clonic seizure, Torticollis |
OMIM:618425 |
| Incessant Infant Ventricular Tachycardia |
|
Bundle branch block, Prolonged QRS complex, Wolff-Parkinson-White syndrome, Ventricular tachycard... |
ORPHA:45453 |
| Leukodystrophy, Hypomyelinating, 18 |
|
Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Dysmetria, Abnormal mot... |
OMIM:618404 |
| Benign Familial Infantile Epilepsy |
|
Generalized clonic seizure, Generalized tonic seizure, Focal-onset seizure, Bilateral tonic-cloni... |
ORPHA:306 |
| Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Bilateral tonic-clonic seizure |
OMIM:269720 |
| Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Gait ataxia, Impaired vibratory sensation, Limb ataxia... |
ORPHA:3115 |
| Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity |
OMIM:309548 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity |
OMIM:183050 |
| Neuropathy, Hereditary, With Or Without Age-Related Macular Degeneration |
|
Peripheral axonal neuropathy, Distal sensory impairment, Decreased nerve conduction velocity |
OMIM:608895 |
| Mental Retardation, Autosomal Recessive 66 |
|
Gait ataxia, Shyness, Attention deficit hyperactivity disorder |
OMIM:618221 |
| Wild Type Abeta2M Amyloidosis |
|
Arrhythmia, Decreased amplitude of sensory action potentials, Paresthesia, Gastrointestinal hemor... |
ORPHA:85446 |
| Glycogen Storage Disease 0, Liver |
|
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia |
OMIM:240600 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Ataxia, Impaired pain sensation |
ORPHA:101078 |
| Developmental And Epileptic Encephalopathy 34 |
|
Inability to walk, Focal-onset seizure, Focal hemiclonic seizure, Seizure, Status epilepticus, Bi... |
OMIM:616645 |
| Cardiomyopathy, Dilated, 1E |
|
Palpitations, Premature atrial contractions, Atrial standstill, Atrial flutter, Ventricular extra... |
OMIM:601154 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal autonomic seizure, Bilateral tonic-clo... |
ORPHA:101046 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
| Long Qt Syndrome 10 |
|
Atrial fibrillation, Sudden cardiac death, Atrioventricular block, Prolonged QT interval, T-wave ... |
OMIM:611819 |
| Atrioventricular Dissociation |
|
Congenital atrioventricular dissociation |
OMIM:209600 |
| Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy |
OMIM:604432 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
| Galactokinase Deficiency |
|
Cataract, Small for gestational age, Nuclear cataract, Failure to thrive |
ORPHA:79237 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Chronic axonal neuropathy, Decreased sensory nerve conduction velocity, Distal sensory impairment... |
OMIM:162400 |
| Trichomegaly |
|
Cataract |
OMIM:190330 |
| Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1368 |
| Microcephaly, Seizures, And Developmental Delay |
|
Seizure, Ataxia, Hyperactivity |
OMIM:613402 |
| Heart-Hand Syndrome, Slovenian Type |
|
Arrhythmia, Abnormal electrophysiology of sinoatrial node origin, Supraventricular arrhythmia, Ab... |
ORPHA:168796 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Focal-onset seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:613608 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Impaired distal vibr... |
OMIM:614436 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy, Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
| Continuous Spikes And Waves During Sleep |
|
Dystonia, Atonic seizure, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clonic ... |
ORPHA:725 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy |
OMIM:616410 |
| Long Qt Syndrome 13 |
|
Paroxysmal atrial fibrillation, Atrial fibrillation, Hypertension, Pulmonary embolism, Atrioventr... |
OMIM:613485 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Cognitive impairment, Dysmetria, Truncal ataxia, Ataxia |
OMIM:617584 |
| Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairment |
OMIM:600361 |
| Motor Neuropathy, Peripheral, With Dysautonomia |
|
Decreased nerve conduction velocity, Abnormal autonomic nervous system physiology, Orthostatic hy... |
OMIM:252320 |
| Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Sensory axonal neuropathy, EEG abnormality, Abnormal periphe... |
ORPHA:457205 |
| Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Orthostatic hypotension, Axonal loss, Enhanced neurotoxicity of vincristine, Degeneration of ante... |
OMIM:118301 |
| Brugada Syndrome 1 |
|
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... |
OMIM:601144 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Ataxia, Impaired pain sensation |
ORPHA:101075 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Decreased motor nerve conduction velocity, Peripheral axonal neuropa... |
ORPHA:101077 |
| 16P11.2P12.2 Microduplication Syndrome |
|
Seizure, Dystonia, Attention deficit hyperactivity disorder |
ORPHA:261204 |
| Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Facial diplegia |
OMIM:618184 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Paresthesia, Impaired tactile sensation, Decreased nerve conduction velocity, Abolished vibration... |
ORPHA:435387 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Demy... |
ORPHA:99950 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Leukodystrophy, Decreased motor nerve conduction velocity, Ataxia, Sensory axonal neuropathy, Fac... |
OMIM:608804 |
| Juvenile Absence Epilepsy |
|
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
ORPHA:1941 |
| Progressive Familial Heart Block, Type Ib |
|
Arrhythmia, Atrioventricular block, Shortened PR interval, Prolonged QT interval, Left anterior f... |
OMIM:604559 |
| Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation |
|
Ventricular arrhythmia, Cardiac conduction abnormality, Atrial flutter, Abnormal left ventricular... |
ORPHA:300751 |
| Atrial Standstill 1 |
|
Premature atrial contractions, Atrial standstill, Atrial cardiomyopathy, Paroxysmal atrial fibril... |
OMIM:108770 |
| Myoclonic Epilepsy Of Infancy |
|
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive tonic-clonic seizur... |
ORPHA:86909 |
| Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Truncal ataxia, Atonic seizure, Absence seizure with eyelid myoclonia, Bilateral ton... |
OMIM:618587 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Distal sensory impairment |
OMIM:606595 |
| Mental Retardation, Autosomal Dominant 33 |
|
Hyperactivity |
OMIM:616311 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Leukodystrophy, Optic atrophy, Delayed myelination, Ataxia |
OMIM:616881 |
| Brugada Syndrome 2 |
|
Sudden cardiac death, Ventricular fibrillation, Prolonged PR interval, First degree atrioventricu... |
OMIM:611777 |
| Ataxia-Pancytopenia Syndrome |
|
Ataxia, Impaired vibration sensation in the lower limbs, Dysmetria, Decreased nerve conduction ve... |
OMIM:159550 |
| Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Abnormal motor nerve conduction velocity |
ORPHA:139536 |
| Neuronopathy, Distal Hereditary Motor, Type Vc |
|
Decreased compound muscle action potential amplitude |
OMIM:619112 |
| Alternating Hemiplegia Of Childhood 1 |
|
Dystonia, Bilateral tonic-clonic seizure |
OMIM:104290 |
| Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic a... |
OMIM:270550 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Dystonia, Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:139406 |
| Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1188 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Generalized non-motor (absence) seizure, Ataxia, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:254800 |
| Friedreich Ataxia |
|
Gait ataxia, Abnormal echocardiogram, Impaired vibratory sensation, Decreased amplitude of sensor... |
OMIM:229300 |
| Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy |
|
Paroxysmal supraventricular tachycardia, Atrial flutter, Ventricular extrasystoles, Atrial fibril... |
OMIM:616117 |
| Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Ataxia, S... |
OMIM:603472 |
| Epilepsy, Childhood Absence, Susceptibility To, 1 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:600131 |
| Febrile Seizures, Familial, 8 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:607681 |
| Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:266100 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Distal sensory impairment, Decreased nerve conduction velocity |
OMIM:302802 |
| Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome |
|
Arrhythmia, Bundle branch block |
ORPHA:1479 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Dystonia, Myoclonic absence seizure, Ataxia, Bilateral tonic-clonic seizure, Bradykinesia, Genera... |
OMIM:617836 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity |
OMIM:615575 |
| Ventricular Tachycardia, Familial |
|
Sudden cardiac death, Right bundle branch block, Paroxysmal ventricular tachycardia |
OMIM:192605 |
| Retinitis Pigmentosa 56 |
|
Posterior subcapsular cataract, Nuclear cataract |
OMIM:613581 |
| Progressive Familial Heart Block, Type Ii |
|
Sudden cardiac death, Complete heart block with narrow QRS complexes, Atrioventricular block, Sin... |
OMIM:140400 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Dystonia, Atonic seizure, Bilateral tonic-clonic seizure, Ataxia, Seizure, Focal impaired awarene... |
ORPHA:382 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Onion... |
OMIM:606482 |
| Landau-Kleffner Syndrome |
|
Generalized clonic seizure, Gait ataxia, Non-convulsive status epilepticus without coma, Bilatera... |
ORPHA:98818 |
| Hyperprolinemia, Type I |
|
Seizure, Status epilepticus, Ataxia, Hyperactivity |
OMIM:239500 |
| Cataract-Microcornea Syndrome |
|
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy |
ORPHA:1377 |
| Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure |
OMIM:609446 |
| Charcot-Marie-Tooth Disease Type 1F |
|
Positive Romberg sign, Impaired pain sensation, Gait ataxia, Paresthesia, Impaired vibratory sens... |
ORPHA:101085 |
| Cardiomyopathy, Dilated, 1G |
|
Premature atrial contractions, Reduced ejection fraction, Atrial fibrillation, Ventricular tachyc... |
OMIM:604145 |
| Cataract 11, Multiple Types |
|
Chorea, Cataract |
OMIM:610623 |
| Sick Sinus Syndrome 1 |
|
Sick sinus syndrome, Ventricular escape rhythm, Atrioventricular block, Absent P wave, Sinus brad... |
OMIM:608567 |
| Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Arrhythmia, Decreased nerve conduction velocity |
ORPHA:2928 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Dystonia, Difficulty walking, Focal-onset seizure, Bilateral tonic-clonic seiz... |
ORPHA:330050 |
| Pachygyria With Mental Retardation, Seizures, And Arachnoid Cysts |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:600176 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Bilateral tonic-clonic seizure, Atypical absence seizure |
OMIM:300388 |
| Idiopathic Anterior Uveitis |
|
Posterior synechiae of the anterior chamber, Posterior subcapsular cataract, Nuclear cataract |
ORPHA:280914 |
| Long Qt Syndrome 14 |
|
Atrioventricular block, Ventricular fibrillation, Sinus bradycardia, Prolonged QT interval, Cardi... |
OMIM:616247 |
| Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Decreased motor nerve conduction velocity, Facial palsy, CNS hypomyelination, Cerebral hypomyelin... |
OMIM:601170 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Ataxia, Seizure, Myoclonus, Hyperactivity |
OMIM:615924 |
| Spinocerebellar Ataxia 10 |
|
Dysdiadochokinesis, Gait ataxia, Limb ataxia, Progressive cerebellar ataxia, Dysmetria, Decreased... |
OMIM:603516 |
| Seizures, Benign Familial Infantile, 1 |
|
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... |
OMIM:601764 |
| Lissencephaly 10 |
|
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Bilateral tonic-cl... |
OMIM:618873 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
| Krabbe Disease |
|
Decreased nerve conduction velocity, EEG abnormality, Optic atrophy, Peripheral demyelination, CN... |
OMIM:245200 |
| Congenital Heart Defects, Multiple Types, 3 |
|
Atrial fibrillation, Atrioventricular block, Tachycardia, Atrioventricular dissociation, Right bu... |
OMIM:614954 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Focal-onset seizur... |
ORPHA:36387 |
| Atrial Septal Defect, Sinus Venosus Type |
|
Premature atrial contractions, Palpitations, Cardiac conduction abnormality, Supraventricular arr... |
ORPHA:99105 |
| Familial Short Qt Syndrome |
|
Ventricular arrhythmia, Palpitations, Shortened QT interval, Atrial fibrillation, Sudden cardiac ... |
ORPHA:51083 |
| Atrial Standstill |
|
Palpitations, Reduced ejection fraction, Arrhythmia, Ischemic stroke, Cardiac conduction abnormal... |
ORPHA:1344 |
| Unilateral Hemispheric Polymicrogyria |
|
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal atonic seizure, Infantile spasms, Gene... |
ORPHA:101071 |
| Aminoacylase 1 Deficiency |
|
Seizure, Hyperactivity |
OMIM:609924 |
| Developmental And Epileptic Encephalopathy 54 |
|
EEG abnormality, Delayed myelination |
OMIM:617391 |
| Sotos Syndrome 3 |
|
Hyperactivity |
OMIM:617169 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Ataxia, Impaired pain sensation |
ORPHA:99014 |
| Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Abnormal left ventricular function, Cardiomyopathy, Heart block |
ORPHA:98912 |
| Cardiomyopathy, Familial Hypertrophic, 13 |
|
ST segment depression, Atrial fibrillation, Hypertrophic cardiomyopathy, Ventricular fibrillation... |
OMIM:613243 |
| Mevalonic Aciduria |
|
Nuclear cataract, Ataxia, Failure to thrive in infancy, Progressive cerebellar ataxia, Cataract, ... |
OMIM:610377 |
| Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Dysdiadochokinesis, Dysmetria, Ataxia, Decreased nerve conduction velocity |
OMIM:618356 |
| Glycine Encephalopathy |
|
Seizure, Lethargy, Myoclonus, Hyperactivity |
OMIM:605899 |
| Uveal Melanoma |
|
Inferior lens subluxation, Mydriasis, Ciliary body melanoma, Zonular cataract, Iris melanoma |
ORPHA:39044 |
| Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
| Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:118300 |
| Cortical Malformations, Occipital |
|
Bilateral tonic-clonic seizure |
OMIM:614115 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2 |
|
Decreased motor nerve conduction velocity |
OMIM:605726 |
| Glycogen Storage Disease Xv |
|
Ventricular arrhythmia, Right bundle branch block |
OMIM:613507 |
| Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion |
|
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... |
ORPHA:363549 |
| Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Decreased nerve conduction velocity, Ataxia, Dysmetria, Distal sensory impairment, Optic atrophy |
OMIM:612674 |
| Developmental And Epileptic Encephalopathy 30 |
|
Seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:616341 |
| Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Painless fractu... |
OMIM:201300 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Peripheral demyelination, Decreased nerve conduction velocity, Peripheral hypomyelination, Long-s... |
OMIM:609136 |
| Spinocerebellar Ataxia 1 |
|
Dysdiadochokinesis, Impaired pain sensation, Decreased amplitude of sensory action potentials, Tr... |
OMIM:164400 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:302800 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Sensory axonal neuropathy, Decreased motor nerve conduction velocity, Abnormal autonomic nervous ... |
ORPHA:139578 |
| Idiopathic Neonatal Atrial Flutter |
|
Reduced ejection fraction, Arrhythmia, Paroxysmal supraventricular tachycardia, Abnormal left ven... |
ORPHA:45452 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral demyelination, Chorea, Peripheral hypomyeli... |
OMIM:604168 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
OMIM:601068 |
| Juvenile Huntington Disease |
|
Dystonia, Gait ataxia, Ataxia, Bradykinesia, Seizure, Progressive cerebellar ataxia, Myoclonus, H... |
ORPHA:248111 |
| Diabetes Mellitus, Transient Neonatal, 1 |
|
Transient neonatal diabetes mellitus, Hyperglycemia |
OMIM:601410 |
| Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
| Developmental And Epileptic Encephalopathy 6B |
|
Inability to walk, Dystonia, Focal-onset seizure, Myoclonic absence seizure, Bilateral tonic-clon... |
OMIM:619317 |
| Cardiomyopathy, Familial Hypertrophic, 6 |
|
Asymmetric septal hypertrophy, Ventricular preexcitation, Wolff-Parkinson-White syndrome, Atrial ... |
OMIM:600858 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Febrile seizure (within the age range of 3 months to 6 years), Photosensitive myoclonic seizure, ... |
ORPHA:263516 |
| Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia |
|
Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617182 |
| Seizures, Benign Familial Infantile, 3 |
|
Focal-onset seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal ... |
OMIM:607745 |
| Hyperlysinemia, Type I |
|
Seizure, Hyperactivity |
OMIM:238700 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Seizure, Hyperactivity |
ORPHA:85288 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Gait disturbance, Bilateral tonic-clonic seizure, Bradykinesia |
OMIM:300423 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
| Rasmussen Subacute Encephalitis |
|
Inability to walk, Generalized tonic seizure, Hemidystonia, Focal-onset seizure, Generalized conv... |
ORPHA:1929 |
| Intellectual Developmental Disorder, Autosomal Recessive 70 |
|
Febrile seizure (within the age range of 3 months to 6 years), Attention deficit hyperactivity di... |
OMIM:618402 |
| Familial Focal Epilepsy With Variable Foci |
|
Focal-onset seizure, Deja vu aura, Bilateral tonic-clonic seizure, Simple febrile seizure, Focal ... |
ORPHA:98820 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Dystonia, Ataxia, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:619065 |
| Alopecia-Mental Retardation Syndrome With Convulsions And Hypergonadotropic Hypogonadism |
|
Seizure, Bilateral tonic-clonic seizure |
OMIM:601217 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Facial palsy, Distal sensory impairment |
OMIM:607684 |
| Brugada Syndrome 5 |
|
Ventricular fibrillation, Bundle branch block, ST segment elevation |
OMIM:612838 |
| Pellagra-Like Syndrome |
|
Cataract, Ataxia |
OMIM:260650 |
| Rare Non-Syndromic Intellectual Disability |
|
Seizure, Dystonia, Difficulty walking, Bilateral tonic-clonic seizure |
ORPHA:101685 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Episodic ataxia, Bilateral tonic-clonic seizure |
ORPHA:53583 |
| Posterior Column Ataxia With Retinitis Pigmentosa |
|
Positive Romberg sign, Sensory ataxia, Decreased sensory nerve conduction velocity, Peripheral de... |
OMIM:609033 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 13 |
|
Bundle branch block, Ventricular tachycardia |
OMIM:615616 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Peripheral axonal neuropathy, Decreased distal sensory nerve action potential, Impaired distal ta... |
OMIM:618400 |
| Mannosidosis, Beta A, Lysosomal |
|
Seizure, Hyperactivity |
OMIM:248510 |
| Long Qt Syndrome 16 |
|
Second degree atrioventricular block, Prolonged QTc interval, Bradycardia, T-wave alternans |
OMIM:618782 |
| Familial Infantile Myoclonic Epilepsy |
|
Focal-onset seizure, Gait disturbance, Blepharospasm, Bilateral tonic-clonic seizure, Ataxia, Sim... |
ORPHA:352582 |
| Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
| Arrhythmogenic Right Ventricular Dysplasia, Familial, 14 |
|
Palpitations, Ventricular extrasystoles, Ventricular tachycardia, Left bundle branch block, Presy... |
OMIM:618920 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Axonal degeneration, Decreased nerve conduction velocity |
OMIM:618138 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:610003 |
| Bundle Branch Block, Familial Isolated Complete Right |
|
Right bundle branch block |
OMIM:113950 |
| Autosomal Dominant Spastic Paraplegia Type 17 |
|
Distal sensory impairment, Abnormal motor nerve conduction velocity |
ORPHA:100998 |
| Childhood Disintegrative Disorder |
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Impaired social interactions, Dementia, Social and occupational deterioration, Motor deterioratio... |
ORPHA:168782 |
| Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
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Cataract, Microcornea, Aniridia |
OMIM:106230 |
| Cednik Syndrome |
|
Abnormality of peripheral nerve conduction, Congestive heart failure, Ataxia, Optic atrophy |
ORPHA:66631 |
| Smith-Magenis syndrome |
|
Hyperactivity |
DECIPHER:8 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
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Inability to walk, Febrile seizure (within the age range of 3 months to 6 years), Dystonia, Gait ... |
OMIM:618917 |
| Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Seizure, Hyperactivity |
OMIM:604317 |
| Familial Dilated Cardiomyopathy |
|
Ventricular arrhythmia, Palpitations, Reduced ejection fraction, Arrhythmia, Elevated pulmonary a... |
ORPHA:217607 |
| Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract, Ataxia |
ORPHA:3233 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Bilateral tonic-clonic seizure, Ataxia, Status epilepticus, Generalized non-motor (absence) seizu... |
OMIM:271980 |
| Yuan-Harel-Lupski Syndrome |
|
Gait ataxia, Demyelinating peripheral neuropathy, Distal sensory impairment, Decreased nerve cond... |
OMIM:616652 |
| Heart-Hand Syndrome Type 3 |
|
Sick sinus syndrome, Bundle branch block |
ORPHA:1342 |
| Brugada Syndrome 8 |
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Right bundle branch block, ST segment elevation, Ventricular tachycardia |
OMIM:613123 |
| Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
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Hyperglycemia, Glucose intolerance |
OMIM:307500 |
| Combined Oxidative Phosphorylation Defect Type 13 |
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Choreoathetosis, Delayed myelination, Decreased nerve conduction velocity |
ORPHA:319514 |
| Late-Infantile/Juvenile Krabbe Disease |
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Prolonged brainstem auditory evoked potentials, Impaired tactile sensation, EEG with persistent a... |
ORPHA:206443 |
| Intellectual Developmental Disorder With Cardiac Arrhythmia |
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Arrhythmia, Sick sinus syndrome, Bradycardia |
OMIM:617173 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
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Abnormality of the seventh cranial nerve, Somatic sensory dysfunction, Abnormal peripheral action... |
ORPHA:90117 |
| Pontocerebellar Hypoplasia, Type 14 |
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Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Infantile spasms |
OMIM:619301 |
| Cardiomyopathy, Familial Hypertrophic, 16 |
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Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... |
OMIM:613838 |
| Spinocerebellar Ataxia Type 1 |
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Dysdiadochokinesis, Chorea, Abnormal nerve conduction velocity, Progressive cerebellar ataxia, Dy... |
ORPHA:98755 |
| Insulin-Like Growth Factor I Deficiency |
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Hyperactivity |
OMIM:608747 |
| Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity, Impaired pain sensation |
ORPHA:2926 |
| Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
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Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... |
OMIM:612158 |
| Diabetes Mellitus, Transient Neonatal, 3 |
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Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes |
OMIM:610582 |
| Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101001 |
| Cataract 47 |
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Cataract, Microcornea |
OMIM:612018 |
| Autosomal Dominant Non-Syndromic Intellectual Disability |
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Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyeli... |
ORPHA:178469 |
| Lethal Ataxia With Deafness And Optic Atrophy |
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Decreased motor nerve conduction velocity, EEG with focal epileptiform discharges, Spinal cord po... |
ORPHA:1187 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Onion bul... |
OMIM:218000 |
| Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
| Megalocornea |
|
Decreased corneal thickness, Mosaic corneal dystrophy, Deep anterior chamber, Iridodonesis, Catar... |
OMIM:309300 |
| Chronic Atrial And Intestinal Dysrhythmia |
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Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... |
OMIM:616201 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
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Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure |
ORPHA:79137 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dysdiadochokinesis, Dystonia, Spastic ataxia, Bilateral tonic-clonic seizure, Ataxia, Myoclonus, ... |
OMIM:614487 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Seizure, Ataxia, Hyperactivity |
OMIM:300983 |
| Multifocal Motor Neuropathy |
|
Motor conduction block |
ORPHA:641 |
| Intellectual Developmental Disorder, X-Linked 107 |
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Hyperactivity |
OMIM:301013 |
| Bilateral Generalized Polymicrogyria |
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Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyeli... |
ORPHA:208447 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Anterior cortical cataract, Corneal dystrophy |
OMIM:221800 |
| Dihydropyrimidine Dehydrogenase Deficiency |
|
Seizure, Lethargy, Hyperactivity |
OMIM:274270 |
| Myopathy, Myofibrillar, 1 |
|
Restrictive cardiomyopathy, Facial palsy, Third degree atrioventricular block, Dilated cardiomyop... |
OMIM:601419 |
| Metachromatic Leukodystrophy |
|
Chorea, Decreased nerve conduction velocity, Ataxia, Peripheral demyelination, Optic atrophy |
OMIM:250100 |
| Pontocerebellar Hypoplasia, Type 15 |
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Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Infantile spasms |
OMIM:619302 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Paresthesia, Ataxia, Dysmetria, Motor axonal neuropathy, Abnormality of peripheral nerve conduction |
ORPHA:48431 |
| Developmental And Epileptic Encephalopathy 17 |
|
Chorea, Athetosis, Delayed myelination, Hypsarrhythmia |
OMIM:615473 |
| Anterior Segment Dysgenesis 8 |
|
Persistent pupillary membrane, Uveal ectropion, Ectopia lentis, Microphakia, Hypoplasia of the ir... |
OMIM:617319 |
| Pyridoxine-Dependent Epilepsy |
|
Atonic seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Early onset absence seizures... |
ORPHA:3006 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Seizure, Dystonia, Ataxia, Hyperactivity |
OMIM:612716 |
| Mental Retardation, Autosomal Dominant 43 |
|
Seizure, Hyperactivity |
OMIM:616977 |
| Heart-Hand Syndrome, Spanish Type |
|
Sick sinus syndrome |
OMIM:140450 |
| Autosomal Recessive Non-Syndromic Intellectual Disability |
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Dystonia, Focal-onset seizure, Seizure, Hyperactivity, Generalized-onset seizure, Epileptic spasm |
ORPHA:88616 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1933 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination |
ORPHA:401835 |
| Diabetes Mellitus, Permanent Neonatal, 2 |
|
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizure |
OMIM:618856 |
| Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Leukodystrophy |
OMIM:610532 |
| Xq25 Microduplication Syndrome |
|
Seizure, Hyperactivity |
ORPHA:521258 |
| Xq25 Duplication Syndrome |
|
Seizure, Hyperactivity |
OMIM:300979 |
| Charcot-Marie-Tooth Disease, Guadalajara Neuronal Type |
|
Axonal loss, Enhanced neurotoxicity of vincristine, Somatic sensory dysfunction, Atrioventricular... |
OMIM:118230 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Generalized non-motor (absence) seizure, Complex febrile seizure, Focal motor seizure, Bilateral ... |
OMIM:619338 |
| Autosomal Recessive Frontotemporal Pachygyria |
|
Seizure, Bilateral tonic-clonic seizure |
ORPHA:329329 |
| Attrv30M Amyloidosis |
|
Atrioventricular block, Arrhythmia, Abnormal autonomic nervous system physiology, Cardiomyopathy |
ORPHA:85447 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Positive Romberg sign, Decreased motor nerve conduction velocity, Distal sensory impairment, Axon... |
OMIM:601152 |
| Aniridia 2 |
|
Cataract, Aniridia |
OMIM:617141 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Seizure, Hyperactivity |
OMIM:300434 |
| Alpers-Huttenlocher Syndrome |
|
Focal-onset seizure, Ataxia, Myoclonus, Bilateral tonic-clonic seizure |
ORPHA:726 |
| Early-Onset Autosomal Dominant Alzheimer Disease |
|
Dementia, Abnormal social behavior, Ataxia, Semantic dementia, Memory impairment |
ORPHA:1020 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Abnormality of peripheral nerve conduction |
ORPHA:101005 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Paresthes... |
ORPHA:298 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells, Pe... |
OMIM:604320 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Gait disturbance, Bilateral tonic-clonic seizure |
ORPHA:100988 |
| Neonatal Lupus Erythematosus |
|
Abnormal electrophysiology of sinoatrial node origin, Arrhythmia, Atrioventricular block, Prolong... |
ORPHA:398124 |
| Exfoliation Syndrome |
|
Anisocoria, Pigment deposition in the trabecular meshwork, Cataract, Pseudoexfoliation, Abnormali... |
OMIM:177650 |
| Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly |
|
Bilateral tonic-clonic seizure |
OMIM:616281 |
| Intellectual Developmental Disorder With Seizures And Language Delay |
|
Myoclonic seizure, Myoclonic absence seizure, Bilateral tonic-clonic seizure |
OMIM:619000 |
| Severe Canavan Disease |
|
Seizure, Lethargy, Bilateral tonic-clonic seizure, Inability to walk |
ORPHA:314911 |
| Coffin-Siris Syndrome 8 |
|
Seizure, Hyperactivity |
OMIM:618362 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Ataxia, Decreased nerve conduction velocity |
OMIM:256600 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Abnormal myelination |
ORPHA:401830 |
| Glycogen Storage Disease 0, Muscle |
|
Bilateral tonic-clonic seizure |
OMIM:611556 |
| Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
| Xeroderma Pigmentosum, Complementation Group B |
|
