Gene Summary

Name:
neuronal cell adhesion molecule
Synonyms:
C030017F07Rik,  Bravo,  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
hyperactivity Nrcamtm2e.1(KOMP)Wtsi HOM   Early adult 7.12×10-05
convulsive seizures Nrcamtm2e.1(KOMP)Wtsi HOM Early adult 7.49×10-05
increased fasting circulating glucose level Nrcamtm2e.1(KOMP)Wtsi HET Early adult 2.61×10-06
limb grasping Nrcamtm2e.1(KOMP)Wtsi HET Early adult 5.45×10-05

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
Embryo N/A heterozygote 100% (2 of 2)
Heart atrium N/A heterozygote Ambiguous
Brain N/A heterozygote 100% (2 of 2)
Dorsal root ganglion N/A heterozygote 0.0% (0 of 2)
Ear N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote 0.0% (0 of 2)
Footplate N/A heterozygote 0.0% (0 of 2)
Forebrain N/A heterozygote 100% (2 of 2)
Forelimb N/A heterozygote 0.0% (0 of 2)
Fronto-nasal process N/A heterozygote Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Head N/A heterozygote 100% (2 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A heterozygote 100% (2 of 2)
Hindlimb N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote Ambiguous
Mandibular process N/A heterozygote 0.0% (0 of 2)
Maxillary process N/A heterozygote 0.0% (0 of 2)
Midbrain N/A heterozygote 100% (2 of 2)
Nose N/A heterozygote 0.0% (0 of 2)
Oral cavity N/A heterozygote Ambiguous
Skin N/A heterozygote 50% (1 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail 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 0.0%
aorta 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
epididymis Unavailable
esophagus 0.0%
eye 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
submandibular gland 0.0%
testis 0.0%
thalamus 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
urinary bladder
uterus 0.0%
vascular system 0.0%
vesicular gland Unavailable
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 Ambiguous
brain 0.0%
dorsal root ganglion Ambiguous
ear 0.0%
embryo 0.0%
eye 0.0%
footplate 0.0%
forebrain 0.0%
forelimb 0.0%
fronto-nasal process Ambiguous
handplate 0.0%
head 0.0%
heart 0.0%
hindbrain 0.0%
hindlimb 0.0%
liver 0.0%
lung 0.0%
mandibular process 0.0%
maxillary process 0.0%
midbrain 0.0%
nose Ambiguous
oral cavity 0.0%
skin 0.0%
spinal cord Ambiguous
tail 0.0%
tail somite group 0.0%

Associated Images

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

Sleep Wake

Wake state (bmp file)

21 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

23 Images

X-ray

XRay Images Whole Body Lateral Orientation

23 Images

X-ray

XRay Images Forepaw

22 Images

X-ray

XRay Images Skull Lateral Orientation

23 Images

X-ray

XRay Images Whole Body Dorso Ventral

23 Images

Eye Morphology

Images Slit Lamp

7 Images

Combined SHIRPA and Dysmorphology

Images

5 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

Adult LacZ

LacZ Images Section

3 Images

Embryo LacZ

LacZ images wholemount

8 Images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

15 Images

Electroretinography

Rod waveform (pdf format)

7 Images

Electroretinography

Cone 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.

The table below shows human diseases associated to Nrcam by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Cataract, Failure to thrive, Ataxia OMIM:619833

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Intellectual Developmental Disorder, Autosomal Recessive 52
Seizure, Aggressive behavior OMIM:616887
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Epilepsy, Nocturnal Frontal Lobe, 2
Status epilepticus, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:603204
Schizophrenia 15
Hyperactivity OMIM:613950
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased distal sensory nerve action potential, Decreased nerve conduction velocity, Distal sens... OMIM:601098
Hypertrophic Neuropathy And Cataract
Cataract, Distal sensory impairment OMIM:239900
Intellectual Developmental Disorder, Autosomal Recessive 2
Attention deficit hyperactivity disorder, Self-injurious behavior, Seizure OMIM:607417
Intellectual Developmental Disorder, Autosomal Dominant 69
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure OMIM:617863
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Agitation, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Tonic seizure... OMIM:619970
Cataract 10, Multiple Types
Developmental cataract, Posterior Y-sutural cataract, Zonular cataract, Nuclear cataract OMIM:600881
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Microcornea, Pulverulent cataract OMIM:116200
Cataract 8, Multiple Types
Nuclear cataract, Developmental cataract OMIM:115665
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired temperature sensation, Abnormal motor neuron morphology, Impair... DECIPHER:29
Cataract 22, Multiple Types
Nuclear cataract, Developmental cataract OMIM:609741
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities
Attention deficit hyperactivity disorder, Seizure, Motor stereotypy OMIM:617787
Chronic Inflammatory Demyelinating Polyneuropathy
Decreased nerve conduction velocity, Abnormal nerve conduction velocity, Paresthesia, Spontaneous... ORPHA:2932
Cataract 17, Multiple Types
Nuclear cataract, Developmental cataract, Pulverulent cataract, Microcornea OMIM:611544
Cataract 2, Multiple Types
Aculeiform cataract, Nuclear pulverulent cataract, Microcornea, Developmental cataract, Nuclear c... OMIM:604307
Developmental And Epileptic Encephalopathy 9
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:300088
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Epilepsy, Familial Temporal Lobe, 1
Focal aware seizure, Focal sensory seizure with olfactory features, Bilateral tonic-clonic seizur... OMIM:600512
Cataract 14, Multiple Types
Zonular cataract OMIM:601885
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity, Febrile seizure (within the age range of 3 months to 6 years) OMIM:300454
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Decreased nerve conduction velocity, Distal sensory impairment, Decre... OMIM:611228
Cataract 41
Nuclear cataract OMIM:116400
Cataract, Age-Related Nuclear
Nuclear cataract OMIM:601371
Cataract 18
Nuclear cataract OMIM:610019
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizure, Bilateral tonic-clonic seizur... OMIM:618357
Epilepsy, Familial Temporal Lobe, 5
Focal aware seizure, Focal impaired awareness seizure, Visually-induced seizure, Bilateral tonic-... OMIM:614417
Seizures, Benign Familial Neonatal, 2
Bilateral tonic-clonic seizure, Focal clonic seizure OMIM:121201
Cataract 5, Multiple Types
Anterior polar cataract, Zonular cataract, Lamellar cataract, Nuclear cataract, Pulverulent cataract OMIM:116800
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Giant Axonal Neuropathy 2, Autosomal Dominant
Impaired distal vibration sensation, Cardiomyopathy, Impaired distal tactile sensation, Decreased... OMIM:610100
Female Restricted Epilepsy With Intellectual Disability
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... ORPHA:101039
Hydrocephaly-Cerebellar Agenesis Syndrome
Cataract, Ataxia ORPHA:1397
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Seizure, Bruxism, Aggressive behavior OMIM:615493
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Seizure, Bruxism, Aggressive behavior ORPHA:356996
Gilles De La Tourette Syndrome
Compulsive behaviors, Phonic tics, Motor tics, Attention deficit hyperactivity disorder, Self-mut... OMIM:137580
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Slowed Nerve Conduction Velocity, Autosomal Dominant
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination OMIM:608236
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand paresthesia, Hypoesthesia, Decreased motor nerve conduction velocity, Segmental peripheral d... OMIM:162500
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Epilepsy, Familial Temporal Lobe, 8
Focal aware autonomic seizure with epigastric sensation/nausea/vomiting/other gastrointestinal ph... OMIM:616461
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Reduced social reciprocity OMIM:618830
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Distal sensory impairment, Peripheral demyelination, Arrhythmia ORPHA:99944
Cataract 23, Multiple Types
Lamellar cataract, Microcornea, Nuclear cataract OMIM:610425
Cataract 20, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract, Sutural cataract OMIM:116100
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Deja vu aura, Bilateral tonic-clonic seizure with focal onset OMIM:611630
Null Syndrome
Optic atrophy, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy, Ataxia, ... ORPHA:280234
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Distal se... OMIM:608323
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Infantile spasms, Bilateral tonic-clonic seizure, Impulsivity, Atypical absence se... OMIM:617113
Epilepsy, Early-Onset, 3, With Or Without Developmental Delay
Generalized non-motor (absence) seizure, Focal-onset seizure, Infantile spasms, Bilateral tonic-c... OMIM:620465
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Seizure, Motor stereotypy OMIM:300271
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction OMIM:612577
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Seizure, Impulsivity, Febrile seizure (within the age range of 3 months to 6 years... OMIM:301008
Charcot-Marie-Tooth Disease, Type 4B1
Distal sensory impairment, Facial palsy, Abnormal auditory evoked potentials, Decreased motor ner... OMIM:601382
Hereditary Hyperferritinemia-Cataract Syndrome
Cataract ORPHA:163
Cataract 35
Cataract OMIM:609376
Cataract 36
Cataract OMIM:613887
Cataract 29
Cataract OMIM:115800
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Hyperactivity, Seizure, Infantile spasms, Self-injurious behavior, Aggressive behavior OMIM:619031
Cataract 3, Multiple Types
Cerulean cataract, Developmental cataract, Nuclear pulverulent cataract, Sutural cataract OMIM:601547
Cataract 15, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:615274
Cataract 33, Multiple Types
Lamellar cataract, Cortical cataract, Nuclear cataract OMIM:611391
Cataract 19, Multiple Types
Cortical pulverulent cataract OMIM:615277
Spinocerebellar Atrophy With Pupillary Paralysis
Spinocerebellar atrophy OMIM:183100
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Atonic seizure, Generalized tonic ... OMIM:609253
Charcot-Marie-Tooth Disease Type 1A
Decreased sensory nerve conduction velocity, Distal sensory impairment, Demyelinating peripheral ... ORPHA:101081
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:619639
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Decreased distal sensory nerve action potential, Decreased sensor... ORPHA:206594
X-Linked Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy ORPHA:293621
Microcephaly 9, Primary, Autosomal Recessive
Seizure, Compulsive behaviors, Impulsivity, Motor tics, Self-injurious behavior, Aggressive behavior OMIM:614852
Cataract 40
Nuclear cataract, Sutural cataract OMIM:302200
Maturity-Onset Diabetes Of The Young, Type 3
Maturity-onset diabetes of the young, Hyperglycemia, Type II diabetes mellitus OMIM:600496
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block DECIPHER:31
Epilepsy, Myoclonic Juvenile
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Morni... OMIM:254770
Developmental And Epileptic Encephalopathy 26
Infantile spasms, Bilateral tonic-clonic seizure, Stereotypical hand wringing, Bilateral tonic-cl... OMIM:616056
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased distal sensory nerve action potential, Impaired pain sensation, Impaired distal vibrati... OMIM:607706
Developmental And Epileptic Encephalopathy 24
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:615871
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:605589
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:607734
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal sensory impairment, Somatic sensory dysfunction... OMIM:615376
Seizures, Benign Familial Infantile, 5
Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617080
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Generalized non-motor (absence) seizure, Tonic seizure, Bilateral tonic-clonic seizure, Febrile s... OMIM:616172
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Distal sensory impairment, Decreased number of peripheral myelinated ... OMIM:609311
Succinic Semialdehyde Dehydrogenase Deficiency
Status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:22
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Impaired pain sensation, Decreased motor nerve conduction velocity, Decreased amplitude of sensor... OMIM:618912
Centralopathic Epilepsy
Focal-onset seizure, Nocturnal seizures, Bilateral tonic-clonic seizure with focal onset OMIM:117100
Cataract 31, Multiple Types
Anterior subcapsular cataract, Posterior subcapsular cataract, Nuclear cataract OMIM:605387
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:604403
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines, Bilateral tonic-clonic seizure OMIM:301076
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:605253
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:616685
Epilepsy, Idiopathic Generalized, Susceptibility To, 8
Generalized non-motor (absence) seizure, Seizure, Bilateral tonic-clonic seizure, Febrile seizure... OMIM:612899
Cataract 30, Multiple Types
Pulverulent cataract, Diffuse nuclear cataract, Posterior polar cataract OMIM:116300
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Focal impaired awareness sei... OMIM:612691
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:604233
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Distal sensory impairment, Decreased number of ... OMIM:608673
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Generalized non-motor (absence) seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Feb... OMIM:613863
Autosomal Dominant Epilepsy With Auditory Features
Focal-onset seizure, Nocturnal seizures, Focal aware seizure, Generalized-onset seizure, Impulsiv... ORPHA:101046
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Hyperactivity, Seizure, Impulsivity, Dysphagia, Status epilepticus OMIM:620448
Intellectual Developmental Disorder, Autosomal Recessive 66
Attention deficit hyperactivity disorder, Gait ataxia, Excessive shyness OMIM:618221
Cataract 21, Multiple Types
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... OMIM:610202
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Distal sensory impairment, Facial palsy, Decreased number of peripheral myelinated nerve fibers, ... OMIM:118210
Familial Progressive Cardiac Conduction Defect
Congestive heart failure, Heart block, Bundle branch block, Arrhythmia, Syncope ORPHA:871
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Agitation, Bilateral tonic-clonic seizure, Motor stereotypy, Status epilepticus, Aggressive behavior OMIM:617171
Roussy-Levy Hereditary Areflexic Dystasia
Distal sensory impairment, Gait ataxia, Decreased number of peripheral myelinated nerve fibers, D... OMIM:180800
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Impaired vibration sensation at ankles, Gait ataxia, Decreas... ORPHA:90103
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Atonic seizure... OMIM:615006
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:121200
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607628
Maturity-Onset Diabetes Of The Young, Type 10
Diabetic ketoacidosis, Diabetes mellitus, Maturity-onset diabetes of the young, Hyperglycemia OMIM:613370
Seizures, Benign Familial Infantile, 2
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:605751
Spinocerebellar Ataxia, Autosomal Recessive 24
Cataract, Limb ataxia, Gait ataxia OMIM:617133
Epilepsy, Familial Temporal Lobe, 6
Focal aware seizure, Bilateral tonic-clonic seizure with focal onset, Febrile seizure (within the... OMIM:615697
Epilepsy, Familial Temporal Lobe, 2
Focal aware seizure, Febrile status epilepticus, Bilateral tonic-clonic seizure, Febrile seizure ... OMIM:608096
Epilepsy, Idiopathic Generalized
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:600669
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:620111
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity OMIM:614751
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset seizure, Bila... OMIM:613060
Neuropathy, Congenital Hypomyelinating, 2
Facial diplegia, Sensory ataxia, Decreased number of peripheral myelinated nerve fibers, Decrease... OMIM:618184
Hyperferritinemia With Or Without Cataract
Anterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Cataract OMIM:600886
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... OMIM:616687
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:617924
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis OMIM:300388
Hyperproinsulinemia
Hyperinsulinemia, Hyperglycemia OMIM:616214
Epilepsy, Familial Focal, With Variable Foci 4
Simple febrile seizure, Focal-onset seizure, Bilateral tonic-clonic seizure, Attention deficit hy... OMIM:617935
Charcot-Marie-Tooth Disease, Type 4A
Decreased sensory nerve conduction velocity, Distal sensory impairment, Decreased motor nerve con... OMIM:214400
Benign Familial Infantile Epilepsy
Generalized non-motor (absence) seizure, Generalized clonic seizure, Simple febrile seizure, Foca... ORPHA:306
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with... OMIM:245570
Long Qt Syndrome 13
Congestive heart failure, Reduced left ventricular ejection fraction, Prolonged QTc interval, Syn... OMIM:613485
Developmental And Epileptic Encephalopathy 112
Focal impaired awareness motor seizure, Generalized non-motor (absence) seizure, Focal-onset seiz... OMIM:620537
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Paresthesia ORPHA:640
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity, Seizure ORPHA:436151
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Distal sensory impairment, Sensory ataxia, Gait ataxia, Basal lamina onion bulb formation, Decrea... OMIM:614895
Chromosome 15Q11-Q13 Duplication Syndrome
Restrictive behavior, Seizure, Bilateral tonic-clonic seizure, Inflexible adherence to routines, ... OMIM:608636
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Akinesia, Gait imbalance, Falls, Freezing of gait, Unsteady gait, Loss of ambulation, Dementia, S... ORPHA:240094
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence seizure, Myoclon... OMIM:616346
Optic Atrophy 10 With Or Without Ataxia, Impaired Intellectual Development, And Seizures
Ataxia, Cerulean cataract OMIM:616732
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Decreased nerve conduction velo... ORPHA:99939
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:302801
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Distal sensory impairment, Impaired distal proprioception, Ataxia, Decreased number of peripheral... OMIM:607250
Early-Onset X-Linked Optic Atrophy
Optic atrophy, Decreased nerve conduction velocity, Dysdiadochokinesis, Gait ataxia, Choreoatheto... ORPHA:98890
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Distal sensory impairment, Onion bulb formation, Decre... OMIM:605588
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Decr... OMIM:619279
Charcot-Marie-Tooth Disease Type 4A
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, D... ORPHA:99948
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Bilateral tonic-clonic se... OMIM:607631
Brugada Syndrome
Sick sinus syndrome, Paroxysmal ventricular tachycardia, ST segment elevation, Trifascicular bloc... ORPHA:130
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Abnormality of peripheral nerve conduction, Abnormal myelination ORPHA:431329
Intellectual Developmental Disorder, X-Linked 100
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure OMIM:300923
Developmental And Epileptic Encephalopathy 94
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Tonic seizure, Bilateral ... OMIM:615369
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure, Aggressive behavior OMIM:617709
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Peripheral hypomyelination, Distal sensory impairment,... OMIM:605285
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Distal sensory impairment, Impaired pain sensati... OMIM:607684
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Febrile seizure (within t... OMIM:611364
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity ORPHA:868
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Inappropriate behavior, Bradykinesia, Frontotemporal dementia, Memory impairment, Falls, Shufflin... ORPHA:412066
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Corneal Dystrophy, Groenouw Type I
Cataract, Nodular corneal dystrophy, Granular corneal dystrophy, Punctate corneal dystrophy OMIM:121900
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude OMIM:605726
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Focal sensory seizure with visual features, Focal impaired awareness seizure, Bilateral tonic-clo... OMIM:615400
Lennox-Gastaut Syndrome
Generalized myoclonic seizure, Focal-onset seizure, Hyperactivity, Bilateral tonic-clonic seizure... ORPHA:2382
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Decreased sensory nerve conduction velocity, Distal sensory impairment, Decreased ... OMIM:609260
Cataract 39, Multiple Types
Lamellar cataract, Developmental cataract, Anterior polar cataract OMIM:615188
Developmental And Epileptic Encephalopathy 12
Epileptic spasm, Focal-onset seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:613722
Developmental And Epileptic Encephalopathy 11
Status epilepticus, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:613721
Charcot-Marie-Tooth Disease Type 1B
Somatic sensory dysfunction, Decreased nerve conduction velocity, Peripheral dysmyelination ORPHA:101082
X-Linked Charcot-Marie-Tooth Disease Type 6
Impaired vibration sensation in the lower limbs, Decreased nerve conduction velocity, Distal sens... ORPHA:352675
Incessant Infant Ventricular Tachycardia
Congestive heart failure, Wolff-Parkinson-White syndrome, Histiocytoid cardiomyopathy, Supraventr... ORPHA:45453
Smith-Magenis syndrome
Hyperactivity, Self-mutilation, Motor stereotypy DECIPHER:8
Charcot-Marie-Tooth Disease Type 4G
Decreased distal sensory nerve action potential, Distal sensory impairment, Impaired tactile sens... ORPHA:99953
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Typical absence seizure, Seizure, Bilateral tonic-clonic seizure, Myoclonic seiz... OMIM:616409
Myoclonic Epilepsy Of Infancy
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Photosensitive tonic-clon... ORPHA:86909
Roussy-Lévy Syndrome
Limb ataxia, Impaired temperature sensation, Impaired pain sensation, Gait ataxia, Acute demyelin... ORPHA:3115
Leukodystrophy, Hypomyelinating, 18
Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Dysmetria, Abnormal mot... OMIM:618404
Cardiomyopathy, Dilated, 1E
Atrial flutter, Left bundle branch block, Reduced left ventricular ejection fraction, Atrial fibr... OMIM:601154
Metachromatic Leukodystrophy Due To Saposin B Deficiency
CNS demyelination, Decreased nerve conduction velocity, Peripheral demyelination, Gait ataxia OMIM:249900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:118220
Intellectual Developmental Disorder, X-Linked 1
Seizure, Atonic seizure, Bilateral tonic-clonic seizure, Aggressive behavior OMIM:309530
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... OMIM:614418
X-Linked Charcot-Marie-Tooth Disease Type 4
Impaired pain sensation, Decreased nerve conduction velocity, Ataxia ORPHA:101078
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Ataxia OMIM:183050
Dravet Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Generalized myoclonic seizur... OMIM:607208
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic sei... OMIM:619157
Glycogen Storage Disease 0, Liver
Neonatal hypoglycemia, Postprandial hyperglycemia, Fasting hypoglycemia OMIM:240600
Juvenile Absence Epilepsy
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... ORPHA:1941
Developmental And Epileptic Encephalopathy 13
Generalized non-motor (absence) seizure, Generalized clonic seizure, Epileptic spasm, Focal tonic... OMIM:614558
Perioral Myoclonia With Absences
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal seizure with eyelid... ORPHA:139426
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased sensory nerve conduction velocity, Distal sensory impairment, Impaired distal vibration... OMIM:145900
Developmental And Epileptic Encephalopathy 30
Seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Motor stereotypy OMIM:616341
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Paroxysmal atrial fibrillation, Sick sinus syndrome, Ventricular couplet, Syncope, Effort-induced... OMIM:604772
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Hyperactivity, Focal motor seizure, Seizure, Infa... ORPHA:599373
Charcot-Marie-Tooth Disease, Type 4B3
Decreased nerve conduction velocity, Distal sensory impairment, Onion bulb formation, Myelin outf... OMIM:615284
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased compound muscle action potential amplitude, Decreased number of peripheral myelinated n... OMIM:600882
Cardiomyopathy, Dilated, 1U
Congestive heart failure, Left bundle branch block, First degree atrioventricular block, Severely... OMIM:613694
Atrial Fibrillation, Familial, 18
Paroxysmal atrial fibrillation, Palpitations, Bradycardia, Permanent atrial fibrillation, First d... OMIM:617280
Continuous Spikes And Waves During Sleep
Typical absence seizure, Focal-onset seizure, Focal motor seizure, Seizure, Focal aware seizure, ... ORPHA:725
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Long Qt Syndrome 10
Prolonged QT interval, Atrial fibrillation, T-wave alternans, Atrioventricular block, Sudden card... OMIM:611819
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Memory impairment, Truncal ataxia, Gait disturbance, G... ORPHA:98764
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:118200
Developmental And Epileptic Encephalopathy 98
Focal-onset seizure, Refractory status epilepticus, Bilateral tonic-clonic seizure, Bilateral ton... OMIM:619605
Epilepsy, Progressive Myoclonic, 12
Attention deficit hyperactivity disorder, Bilateral tonic-clonic seizure, Myoclonus OMIM:619191
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Distal sensory impairment, Decreased compound muscle action potential amplitude, Vestibular schwa... OMIM:613641
Developmental And Epileptic Encephalopathy 74
Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic seizure, Atypica... OMIM:618396
Charcot-Marie-Tooth Disease, Type 4D
Decreased nerve conduction velocity, Distal sensory impairment, Impaired distal proprioception, I... OMIM:601455
Galactokinase Deficiency
Cataract, Failure to thrive, Nuclear cataract, Small for gestational age ORPHA:79237
Retinal Dystrophy With Or Without Macular Staphyloma
Posterior subcapsular cataract, Truncal obesity, Nuclear cataract OMIM:617547
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1368
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Atonic seizure,... OMIM:617391
Progressive Familial Heart Block, Type Ia
Complete heart block with broad QRS complexes, Left anterior fascicular block, Left posterior fas... OMIM:113900
Guanidinoacetate Methyltransferase Deficiency
Generalized myoclonic seizure, Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Atonic sei... ORPHA:382
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Restlessness OMIM:610003
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal sensory impairment, Decreased number of periphe... OMIM:607831
Hyperprolinemia, Type I
Hyperactivity, Seizure, Motor stereotypy, Status epilepticus, Aggressive behavior OMIM:239500
Wild Type Abeta2M Amyloidosis
Congestive heart failure, Gastrointestinal hemorrhage, Decreased nerve conduction velocity, Dyses... ORPHA:85446
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy OMIM:614932
Cataract 11, Multiple Types
Cataract, Chorea, Developmental cataract OMIM:610623
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal sensory impairment, Decreased compound muscle action potential amplitude, Compound muscle ... OMIM:616040
Heart-Hand Syndrome, Slovenian Type
Abnormal atrioventricular conduction, Supraventricular arrhythmia, Arrhythmia, Dilated cardiomyop... ORPHA:168796
Intellectual Developmental Disorder, X-Linked 109
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... OMIM:309548
Landau-Kleffner Syndrome
Generalized non-motor (absence) seizure, Generalized clonic seizure, Focal myoclonic seizure, Noc... ORPHA:98818
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:613287
Brugada Syndrome 1
Supraventricular tachycardia with an accessory connection mediated pathway, Atrial flutter, Atria... OMIM:601144
Sick Sinus Syndrome 4
Paroxysmal atrial fibrillation, Abnormal QRS complex, Syncope, Chronotropic incompetence, Abnorma... OMIM:619464
Atrial Standstill 1
Paroxysmal atrial fibrillation, Premature atrial contractions, Ventricular escape rhythm, First d... OMIM:108770
Intellectual Developmental Disorder With Autism And Speech Delay
Inability to walk, Reduced social reciprocity OMIM:606053
Spinocerebellar Ataxia Type 21
Gait ataxia, Akinesia, Progressive cerebellar ataxia, Cognitive impairment ORPHA:98773
Developmental And Epileptic Encephalopathy 108
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure with generalized onset, T... OMIM:620115
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Distal sensory impairment OMIM:608895
Fraxe Intellectual Disability
Agitation, Hyperactivity, Recurrent hand flapping, Compulsive behaviors, Impulsivity, Stereotypic... ORPHA:100973
X-Linked Charcot-Marie-Tooth Disease Type 1
Impaired pain sensation, Ataxia, Abnormal nerve conduction velocity ORPHA:101075
Hartnup Disorder
Hyperactivity, Attention deficit hyperactivity disorder, Seizure, Generalized tonic seizure OMIM:234500
Ataxia-Pancytopenia Syndrome
Decreased nerve conduction velocity, Distal sensory impairment, Impaired vibration sensation in t... OMIM:159550
Charcot-Marie-Tooth Disease, Type 4B2
Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Decreased moto... OMIM:604563
Progressive Familial Heart Block, Type Ib
Left anterior fascicular block, Prolonged QT interval, Bradycardia, Syncope, Right bundle branch ... OMIM:604559
Glycine Encephalopathy 1
Hyperactivity, Seizure, Impulsivity, Restlessness, Myoclonus, Aggressive behavior OMIM:605899
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Decreased nerve conduction velocity, Distal sensory impairment, Demyelinating peri... OMIM:612674
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Seizures, Benign Familial Infantile, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure ... OMIM:607745
Lissencephaly 10
Generalized non-motor (absence) seizure, Generalized-onset seizure, Bilateral tonic-clonic seizur... OMIM:618873
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
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Convu... OMIM:617389
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Decreased nerve conduction velocity, Distal sensory impairment, Impaired tactile sensation, Impai... ORPHA:435387
Cardiomyopathy, Dilated, 1Bb
Congestive heart failure, Left bundle branch block, Severely reduced left ventricular ejection fr... OMIM:612877
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Bilateral tonic-... OMIM:617831
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Ataxia ORPHA:1188
Cardiomyopathy, Dilated, 1V
Congestive heart failure, Left bundle branch block, Reduced left ventricular ejection fraction, A... OMIM:613697
Retinitis Pigmentosa 37
Posterior subcapsular cataract, Nuclear cataract OMIM:611131
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Atrial fibrillation, Pr... OMIM:616117
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Generalized non-motor (absence) seizure, Typical absence seizure, Bilateral tonic-clonic seizure,... OMIM:607682
X-Linked Charcot-Marie-Tooth Disease Type 3
Demyelinating peripheral neuropathy, Somatic sensory dysfunction, Decreased motor nerve conductio... ORPHA:101077
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity ORPHA:139536
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:606595
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Congestive heart failure, Atrial flutter, Heart block, Atrial fibrillation, Supraventricular tach... ORPHA:300751
Friedreich Ataxia
Limb ataxia, Congestive heart failure, Impaired proprioception, Optic atrophy, Decreased sensory ... OMIM:229300
Brugada Syndrome 2
Right bundle branch block, Ventricular fibrillation, Prolonged PR interval, Syncope, First degree... OMIM:611777
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:616187
Developmental And Epileptic Encephalopathy 59
Infantile spasms, Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Self-injur... OMIM:617904
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude OMIM:619112
Ventricular Tachycardia, Familial
Right bundle branch block, Cardiomyopathy, Sudden cardiac death, Paroxysmal ventricular tachycardia OMIM:192605
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Bundle branch block, Arrhythmia ORPHA:1479
Charcot-Marie-Tooth Disease Type 4D
Distal sensory impairment, Demyelinating peripheral neuropathy, Decreased amplitude of sensory ac... ORPHA:99950
Congenital Microcoria
Iris transillumination defect, Astigmatism, Corneal stromal edema, Megalocornea, Hypoplastic iris... ORPHA:566
Myoclonic Epilepsy, Familial Infantile
Generalized myoclonic seizure, Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Febr... OMIM:605021
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Distal sensory impairment, Impaired distal proprioce... OMIM:162400
Cardiomyopathy, Dilated, 1G
Congestive heart failure, Reduced left ventricular ejection fraction, Atrial fibrillation, Premat... OMIM:604145
Progressive Familial Heart Block, Type Ii
Syncope, Complete heart block with narrow QRS complexes, Sinus bradycardia, Atrioventricular bloc... OMIM:140400
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract OMIM:613581
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Abnormal fear-induced behavior, Aggressive behavior, Seizure, Bilateral tonic-clonic seizure, Foc... ORPHA:208441
Sick Sinus Syndrome 1
Sick sinus syndrome, Prolonged QT interval, Ventricular escape rhythm, Sinus bradycardia, Atriove... OMIM:608567
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Ataxia, Syncope, Decreased motor nerve conduction ve... OMIM:603472
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Distal sensory impairment OMIM:302802
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Seizure OMIM:613402
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Distal sensory impairment OMIM:600361
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity OMIM:615575
Developmental And Epileptic Encephalopathy 67
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Recurrent hand flapping, ... OMIM:618141
Cardiomyopathy, Familial Hypertrophic, 6
Congestive heart failure, Wolff-Parkinson-White syndrome, Left bundle branch block, Atrial fibril... OMIM:600858
Corticobasal Syndrome
Bradykinesia, Akinesia, Memory impairment, Gait disturbance, Dementia ORPHA:454887
Atrial Standstill
Sick sinus syndrome, Congestive heart failure, Ischemic stroke, Reduced left ventricular ejection... ORPHA:1344
Cataract-Microcornea Syndrome
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma ORPHA:1377
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Abnormal motor nerve conduction velocity OMIM:158580
Developmental And Epileptic Encephalopathy 109
Typical absence seizure, Hyperactivity, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic ... OMIM:620145
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Seizure, Myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:162350
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Focal motor seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:608105
Spastic Ataxia, Charlevoix-Saguenay Type
Decreased sensory nerve conduction velocity, Distal sensory impairment, Impaired vibration sensat... OMIM:270550
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Congestive heart failure, Left bundle branch block, Ventricular arrhythmia, Increased left ventri... OMIM:601493
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, EEG abnormality, Decreased nerve conduction velocity, Abnormal peripheral action p... ORPHA:457205
Charcot-Marie-Tooth Disease Type 1F
Demyelinating motor neuropathy, Limb ataxia, Demyelinating sensory neuropathy, Impaired proprioce... ORPHA:101085
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Atypical absence seizure, Bilateral tonic-clonic seizure OMIM:600176
Manganese Poisoning
Bradykinesia, Akinesia, Memory impairment, Confusion, Gait disturbance, Inappropriate laughter ORPHA:306682
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Distal sensory impairment, Impaired distal proprioception, Impaired distal vibration sensation, G... OMIM:616688
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity, Seizure OMIM:300928
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Seizure, Compulsive behaviors, Phonic tics, Aggressive behavior OMIM:301107
Unilateral Hemispheric Polymicrogyria
Generalized myoclonic seizure, Focal-onset seizure, Focal atonic seizure, Infantile spasms, Bilat... ORPHA:101071
Exudative Vitreoretinopathy 6
Cataract, Cortical cataract, Nuclear cataract OMIM:616468
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Distal sensory impairment, Decreased compound muscle action potential amplitude, Impaired pain se... OMIM:618279
Episodic Ataxia, Type 9
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clonic seizure OMIM:618924
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Childhood Disintegrative Disorder
Motor deterioration, Progressive language deterioration, Reduced social reciprocity, Dementia, Me... ORPHA:168782
Charcot-Marie-Tooth Disease, Type 4C
Delayed brainstem auditory evoked response conduction time, Distal sensory impairment, Abnormal c... OMIM:601596
Atrial Septal Defect, Sinus Venosus Type
Congestive heart failure, Atrial flutter, Atrial fibrillation, Supraventricular arrhythmia, Supra... ORPHA:99105
Indifference To Pain, Congenital, Autosomal Recessive
Impaired proprioception, Abnormal nerve conduction velocity, Impaired temperature sensation, Impa... OMIM:243000
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Cardiomyopathy, Familial Hypertrophic, 16
Left bundle branch block, Reduced left ventricular ejection fraction, Palpitations, Atrial fibril... OMIM:613838
Intellectual Developmental Disorder, Autosomal Dominant 67
Hyperactivity, Seizure, Compulsive behaviors, Motor tics, Attention deficit hyperactivity disorder OMIM:619927
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Arrhythmia ORPHA:2928
Congenital Heart Defects, Multiple Types, 3
Tachycardia, Atrial fibrillation, Right bundle branch block, Atrioventricular block, Atrioventric... OMIM:614954
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Inappropriate behavior, Nail-biting, Hyperactivity, Seizure, Generalized-onset seizure, Bilateral... OMIM:619827
Uveal Melanoma
Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma ORPHA:39044
Long Qt Syndrome 14
2:1 atrioventricular block, Prolonged QT interval, Prolonged QTc interval, T-wave alternans, Card... OMIM:616247
Krabbe Disease
Optic atrophy, Decreased nerve conduction velocity, Abnormal flash visual evoked potentials, CNS ... OMIM:245200
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Heart block, Cardiomyopathy ORPHA:98912
Mevalonic Aciduria
Progressive cerebellar ataxia, Failure to thrive, Ataxia, Cataract, Failure to thrive in infancy,... OMIM:610377
Sinoatrial Node Dysfunction And Deafness
Abnormal QRS complex, Syncope, Increased heart rate variability, Bradycardia OMIM:614896
Familial Short Qt Syndrome
Bradycardia, Atrial fibrillation, Syncope, Ventricular fibrillation, Ventricular arrhythmia, Shor... ORPHA:51083
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Developmental And Epileptic Encephalopathy 52
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Atypical absence seizure,... OMIM:617350
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Seizure, Infantile spasms, Bilateral tonic-clonic seizure, Myoclonic seizure, My... OMIM:616139
Arrhythmogenic Right Ventricular Dysplasia, Familial, 10
Epsilon wave, Right ventricular cardiomyopathy, Palpitations, Right bundle branch block, Prematur... OMIM:610193
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Mental deterioration, Dementia OMIM:300894
Epilepsy, Progressive Myoclonic, 9
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Action myoclonus, Myoclonus, Statu... OMIM:616540
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Hyperactivity, Seizure, B... OMIM:271980
Perry Syndrome
Inappropriate behavior, Bradykinesia, Akinesia, Frontotemporal dementia, Short stepped shuffling ... OMIM:168605
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Seizure precipitated by febrile infection, Complex febrile seizure, Status epilepticus without pr... ORPHA:363549
Generalized Epilepsy With Febrile Seizures-Plus
Obsessive-compulsive trait, Generalized non-motor (absence) seizure, Generalized myoclonic seizur... ORPHA:36387
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Decreased motor nerve conduction velocity, Abolished vibration sense OMIM:620068
Spastic Paraplegia 17, Autosomal Dominant
Impaired distal proprioception, Decreased motor nerve conduction velocity, Impaired vibration sen... OMIM:270685
Developmental Delay With Or Without Epilepsy
Generalized non-motor (absence) seizure, Focal-onset seizure, Seizure, Infantile spasms, Bilatera... OMIM:620540
Cahmr Syndrome
Lamellar cataract OMIM:211770
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Interictal epil... OMIM:218000
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Painless fractures due to injury, Decreased sensory nerve conduction velocity, Decreased nerve co... OMIM:201300
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Optic atrophy, Facial palsy, Ataxia, Decreased motor nerve conduc... OMIM:608804
Cardiomyopathy, Dilated, 1A
Congestive heart failure, Atrial flutter, Atrial fibrillation, Sinus bradycardia, Ventricular arr... OMIM:115200
Spinocerebellar Ataxia, Autosomal Recessive 32
Limb ataxia, Somatic sensory dysfunction, Abnormal nerve conduction velocity, Gait ataxia OMIM:619862
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Left ventricular outflow tract obstruction, Right bundle branch block, ... OMIM:613251
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Focal-onset seizure, Status epilepticus without prominent motor symptoms, Bilateral tonic-clonic ... OMIM:204300
X-Linked Charcot-Marie-Tooth Disease Type 5
Impaired pain sensation, Optic atrophy, Ataxia, Abnormal nerve conduction velocity ORPHA:99014
Cardiomyopathy, Familial Hypertrophic, 11
Congestive heart failure, Atrial flutter, Left anterior fascicular block, Left bundle branch bloc... OMIM:612098
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Focal-onset seizure, Compulsive behaviors, Stereotypical hand wringing, Bilateral tonic-clonic se... OMIM:618917
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Hand paresthesia, Distal sensory impairment, Impaired pain sensation, Impaired vibration sensatio... OMIM:613640
Cardiomyopathy, Familial Hypertrophic, 26
Congestive heart failure, Left anterior fascicular block, Left bundle branch block, Atrial fibril... OMIM:617047
Ataxia, Sensory, 1, Autosomal Dominant
Impaired distal proprioception, Positive Romberg sign, Dysesthesia, Impaired distal vibration sen... OMIM:608984
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Paroxysmal ventricular tachycardia, Right bundle branch block, Tricuspid re... OMIM:619897
Diabetes Mellitus, Transient Neonatal, 1
Hyperglycemia, Transient neonatal diabetes mellitus OMIM:601410
Spinocerebellar Ataxia 21
Limb ataxia, Akinesia, Progressive cerebellar ataxia, Gait ataxia, Cognitive impairment, Ataxia, ... OMIM:607454
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Seizure, Aggressive behavior OMIM:248510
Microphthalmia/Coloboma 3
Cataract, Iris coloboma OMIM:610092
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal sensory impairment, Impaired distal vibration sensation, Decreased compound muscle action ... OMIM:619519
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal QRS complex, Reduced left ventricular ejection fra... ORPHA:45452
Familial Focal Epilepsy With Variable Foci
Simple febrile seizure, Focal-onset seizure, Nocturnal seizures, Infantile spasms, Focal aware se... ORPHA:98820
Cardiomyopathy, Familial Hypertrophic, 10
Systolic anterior motion of the mitral valve, Left bundle branch block, Palpitations, Supraventri... OMIM:608758
Charcot-Marie-Tooth Disease Type 2B1
Distal sensory impairment, Decreased motor nerve conduction velocity, Decreased amplitude of sens... ORPHA:98856
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Atypical absence seizure, ... OMIM:618587
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Impaired proprioception, Decreased sensory nerve conduction velocity, Positive Rom... OMIM:609033
Cardiomyopathy, Familial Hypertrophic, 13
Left anterior fascicular block, Concentric hypertrophic cardiomyopathy, Reduced left ventricular ... OMIM:613243
Combined Oxidative Phosphorylation Defect Type 13
Delayed myelination, Decreased nerve conduction velocity, Choreoathetosis ORPHA:319514
X-Linked Intellectual Disability, Stocco Dos Santos Type
Hyperactivity, Seizure ORPHA:85288
Brugada Syndrome 5
ST segment elevation, Ventricular fibrillation, Bundle branch block OMIM:612838
Spinocerebellar Ataxia 1
Limb ataxia, Optic atrophy, Impaired proprioception, Decreased sensory nerve conduction velocity,... OMIM:164400
Lower Motor Neuron Syndrome With Late-Adult Onset
Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity ORPHA:276435
Long Qt Syndrome 2
Prolonged QT interval, Prolonged QTc interval, Cardiac arrest, Notched T wave, Ventricular fibril... OMIM:613688
Late-Infantile/Juvenile Krabbe Disease
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... ORPHA:206443
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Left bundle branch block, Palpitations, Premature ventricular contraction, Ventricula... OMIM:618920
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Impaired distal vibration sensation, Distal sensory impairment, Decreased motor nerve conduction ... OMIM:614436
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder, Seizure OMIM:617182
Long Qt Syndrome 16
Prolonged QTc interval, T-wave alternans, Second degree atrioventricular block, Bradycardia OMIM:618782
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Seizure, Motor stereotypy, Aggressive behavior OMIM:619470
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Nuclear cataract ORPHA:2848
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Hyperactivity, Seizure, Generalized-onset seizure, Impulsivity, Bilateral tonic-clonic seizure, S... OMIM:604317
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Spinocerebellar Ataxia 10
Limb ataxia, Decreased nerve conduction velocity, Distal sensory impairment, Progressive cerebell... OMIM:603516
Leukoencephalopathy With Dystonia And Motor Neuropathy
Impaired vibratory sensation, Decreased motor nerve conduction velocity OMIM:613724
Epilepsy, Progressive Myoclonic, 6
Generalized non-motor (absence) seizure, Myoclonic status epilepticus, Bilateral tonic-clonic sei... OMIM:614018
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Hyperactivity, Seizure, Bilateral tonic-clonic seizure, Febrile seizure (within the age range of ... OMIM:620292
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Microcornea, Aniridia OMIM:106230
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Seizure, Stereotypical hand wringing, Bilateral tonic-clonic seizure, Tonic seiz... OMIM:618497
Hsd10 Disease
Abnormal social behavior, Short attention span, Gait disturbance, Ataxia, Choreoathetosis ORPHA:391417
Sick Sinus Syndrome 3, Susceptibility To
Sick sinus syndrome OMIM:614090
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Seizure, Recurrent hand flapping, Febrile seizure (within the age range of 3 month... OMIM:615516
Hereditary Geniospasm
Abnormal social behavior ORPHA:53372
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Glucose intolerance, Hyperglycemia OMIM:307500
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Focal aware seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure wit... OMIM:610042
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Decreased nerve conduction velocity, Truncal ataxia, Dysdiadochokinesis, Impaired vibratory sensa... OMIM:238970
Anterior Segment Dysgenesis 8
Microphakia, Iris transillumination defect, Iridodonesis, Corneal stromal edema, Corneal opacity,... OMIM:617319
Myoclonic Epilepsy Of Unverricht And Lundborg
Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:254800
Rasmussen Subacute Encephalitis
Repeated focal motor seizures, Epilepsia partialis continua, Epileptic spasm, Focal-onset seizure... ORPHA:1929
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Dysdiadochokinesis, Decreased nerve conduction velocity, Ataxia, Dysmetria OMIM:618356
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Peripheral hypomyelination, Chorea, Ataxia, Abnormality of peripheral nerve conduction, Dysmetria... ORPHA:48431
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects
Cataract, Nuclear cataract, Ataxia OMIM:608885
Cardiomyopathy, Dilated, 1D
Congestive heart failure, Prolonged QT interval, Reduced left ventricular ejection fraction, Inco... OMIM:601494
Long Qt Syndrome 15
2:1 atrioventricular block, Polymorphic ventricular tachycardia, Ventricular bigeminy, Bradycardi... OMIM:616249
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Generalized myoclonic seizure, Tonic seizure, Bilateral tonic-clonic seizure OMIM:618090
Brugada Syndrome 8
Ventricular tachycardia, Right bundle branch block, ST segment elevation OMIM:613123
Atrophoderma Vermiculata
Heart block ORPHA:79100
Bilateral Generalized Polymicrogyria
Eyelid myoclonus, Generalized myoclonic seizure, Focal-onset seizure, Typical absence seizure, Or... ORPHA:208447
Developmental And Epileptic Encephalopathy 6B
Generalized non-motor (absence) seizure, Epileptic spasm, Focal-onset seizure, Myoclonic absence ... OMIM:619317
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of peripheral nerve conduction ORPHA:101001
Left Ventricular Noncompaction 1
Congestive heart failure, Palpitations, Atrial fibrillation, Noncompaction cardiomyopathy, Left v... OMIM:604169
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Hyperactivity, Seizure, Bruxism OMIM:300434
Developmental And Epileptic Encephalopathy 99
Generalized non-motor (absence) seizure, Eyelid myoclonus, Epileptic spasm, Focal-onset seizure, ... OMIM:619606
Episodic Ataxia, Type 5
Typical absence seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Febrile seizur... OMIM:613855