Gene: Nrcam MGI:104750

Log in to follow

Gene Summary

Name:
neuronal cell adhesion molecule
Synonyms:
Bravo,  C030017F07Rik,  C130076O07Rik

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

Phenotype System Allele Zyg Sex Life Stage P Value
convulsive seizures Nrcamtm2e.1(KOMP)Wtsi HOM Early adult 7.37×10-05
increased fasting circulating glucose level Nrcamtm2e.1(KOMP)Wtsi HET Early adult 1.81×10-06
hyperactivity Nrcamtm2e.1(KOMP)Wtsi HOM   Early adult 4.05×10-05
limb grasping Nrcamtm2e.1(KOMP)Wtsi HET Early adult 5.21×10-05

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
Select physiological systems to view:
Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Kidney  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 0.0% (0 of 2)
Brainstem N/A heterozygote 0.0% (0 of 2)
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote 0.0% (0 of 2)
Cerebral cortex N/A heterozygote 0.0% (0 of 2)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote 0.0% (0 of 2)
Hypothalamus N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote Not available
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Peripheral nervous system N/A heterozygote 0.0% (0 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote Not available
Skeletal muscle N/A heterozygote 0.0% (0 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 0.0% (0 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote 0.0% (0 of 2)
Submandibular gland N/A heterozygote 0.0% (0 of 2)
Thalamus N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote 0.0% (0 of 2)
Trachea N/A heterozygote 0.0% (0 of 2)
Urinary bladder N/A heterozygote 0.0% (0 of 2)
Uterus N/A heterozygote 0.0% (0 of 2)
Vascular system N/A heterozygote 0.0% (0 of 2)
Vesicular gland N/A heterozygote Not available
White adipose tissue N/A heterozygote 0.0% (0 of 2)

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
N/A heterozygote 100% (2 of 2)
N/A heterozygote Ambiguous
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote Ambiguous
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote Ambiguous
N/A heterozygote 50% (1 of 2)
N/A heterozygote 100% (2 of 2)
N/A heterozygote 0.0% (0 of 2)
N/A heterozygote 50% (1 of 2)

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.68% (4 of 584)
aorta 0.17% (1 of 584)
brain 0.68% (4 of 584)
brainstem 0.34% (2 of 584)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 584)
cerebellum 0.51% (3 of 584)
cerebral cortex 0.34% (2 of 584)
epididymis 12.78% (17 of 133)
esophagus 1.72% (7 of 408)
eye 0.0%
heart 0.34% (2 of 584)
hippocampus 0.51% (3 of 584)
hypothalamus 0.34% (2 of 584)
kidney 3.6% (21 of 584)
large intestine 1.71% (10 of 584)
liver 0.0%
lower urinary tract 0.17% (1 of 584)
lung 0.34% (2 of 584)
lymph node 0.17% (1 of 584)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.34% (2 of 584)
ovary 0.17% (1 of 584)
oviduct 0.0%
pancreas 0.86% (5 of 584)
peripheral nervous system 0.34% (2 of 584)
peyers patch 0.0%
pituitary gland 0.17% (1 of 584)
prostate gland 2.05% (12 of 584)
skeletal muscle 0.0%
skin 0.17% (1 of 584)
small intestine 1.54% (9 of 584)
spinal cord 0.51% (3 of 584)
spleen 0.51% (3 of 584)
stomach 2.05% (12 of 584)
striatum 0.51% (3 of 584)
submandibular gland 1.53% (2 of 131)
testis 1.03% (6 of 584)
thalamus 0.0%
thymus 0.17% (1 of 584)
thyroid gland 2.74% (16 of 584)
trachea 0.51% (3 of 584)
urinary bladder 0.0%
uterus 0.0%
vascular system 0.0%
vesicular gland 0.0%
white adipose tissue 0.0%

Background staining occurs in wild type mice and embryos at an incidental rate.

Background staining occurs in wild type embryos at a measurable rate.

Anatomy Background staining in controls(WT)
atrium 1.69% (1 of 59)
brain 1.18% (6 of 507)
dorsal root ganglion 1.69% (1 of 59)
ear 0.2% (1 of 507)
embryo 0.2% (1 of 508)
eye 0.2% (1 of 507)
footplate 0.2% (1 of 507)
forebrain 0.2% (1 of 507)
forelimb 0.2% (1 of 507)
fronto-nasal process 1.67% (1 of 60)
handplate 0.2% (1 of 507)
head 0.99% (5 of 507)
heart 0.2% (1 of 507)
hindbrain 1.18% (6 of 507)
hindlimb 0.2% (1 of 507)
liver 0.2% (1 of 502)
lung 0.2% (1 of 502)
mandibular process 0.2% (1 of 507)
maxillary process 0.2% (1 of 507)
midbrain 0.2% (1 of 507)
nose 1.3% (1 of 77)
oral cavity 0.2% (1 of 502)
skin 0.2% (1 of 507)
spinal cord 1.41% (1 of 71)
tail 0.2% (1 of 507)
tail somite group 0.2% (1 of 507)

Associated Images

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

X-ray

XRay Images Forepaw

20 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

21 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

X-ray

XRay Images Whole Body Dorso Ventral

21 Images

X-ray

XRay Images Skull Lateral Orientation

21 Images

X-ray

XRay Images Whole Body Lateral Orientation

21 Images

Embryo LacZ

LacZ images wholemount

8 Images

Sleep Wake

Wake state (bmp file)

18 Images

Adult LacZ

LacZ Images Section

3 Images

Electroretinography

Cone waveform (pdf format)

7 Images

Electroretinography

Rod waveform (pdf format)

7 Images

Human diseases caused by Nrcam 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 Nrcam by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
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
Impaired social interactions, Dementia, Social and occupational deterioration, Motor deterioratio... ORPHA:168782
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
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
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
Right bundle branch block, ST segment elevation, Ventricular tachycardia OMIM:613123
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Hyperglycemia, Glucose intolerance OMIM:307500
Combined Oxidative Phosphorylation Defect Type 13
Choreoathetosis, Delayed myelination, Decreased nerve conduction velocity ORPHA:319514
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Impaired tactile sensation, EEG with persistent a... ORPHA:206443
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormality of the seventh cranial nerve, Somatic sensory dysfunction, Abnormal peripheral action... ORPHA:90117
Pontocerebellar Hypoplasia, Type 14
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Infantile spasms OMIM:619301
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Asymmetric septal hypertrophy, Atrial fibrillation, Ventricular tachyca... OMIM:613838
Spinocerebellar Ataxia Type 1
Dysdiadochokinesis, Chorea, Abnormal nerve conduction velocity, Progressive cerebellar ataxia, Dy... ORPHA:98755
Insulin-Like Growth Factor I Deficiency
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
Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia, Cardiac arrest, Dilate... OMIM:612158
Diabetes Mellitus, Transient Neonatal, 3
Transient neonatal diabetes mellitus, Hyperglycemia, Maternal diabetes OMIM:610582
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Cataract 47
Cataract, Microcornea OMIM:612018
Autosomal Dominant Non-Syndromic Intellectual Disability
Generalized tonic seizure, Dystonia, Focal emotional seizure with laughing, Atonic seizure, Eyeli... ORPHA:178469
Lethal Ataxia With Deafness And Optic Atrophy
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
Atrial flutter, Sick sinus syndrome, Atrial fibrillation, Pulmonic stenosis, Mitral regurgitation... OMIM:616201
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
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
Hyperactivity OMIM:301013
Bilateral Generalized Polymicrogyria
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
Dystonia, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Infantile spasms OMIM:619302
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
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
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