Gene Summary

Name:
SH3 domain and tetratricopeptide repeats 2
Synonyms:
D430044G18Rik

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
decreased circulating glucose level Sh3tc2tm1b(KOMP)Wtsi HOM Early adult 1.35×10-06

Download data as:  TSV  XLS

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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
Brain  Section images heterozygote 100% (2 of 2)
Brainstem  Section images heterozygote 100% (2 of 2)
Cerebellum  Section images heterozygote 100% (2 of 2)
Cerebral cortex  Section images heterozygote 50% (1 of 2)
Eye  Section images heterozygote 100% (2 of 2)
Heart  Section images heterozygote 50% (1 of 2)
Hippocampus  Section images heterozygote 50% (1 of 2)
Hypothalamus  Section images heterozygote 50% (1 of 2)
Kidney  Section images heterozygote 100% (2 of 2)
Midbrain  Section images heterozygote 100% (2 of 2)
Olfactory lobe  Section images heterozygote 100% (2 of 2)
Ovary  Section images heterozygote 50% (1 of 2)
Peripheral nervous system  Section images heterozygote 100% (2 of 2)
Skin  Section images heterozygote 100% (2 of 2)
Spinal cord  Section images heterozygote 100% (2 of 2)
Striatum  Section images heterozygote 100% (2 of 2)
Submandibular gland  Section images heterozygote 100% (2 of 2)
Testis  Section images heterozygote 50% (1 of 2)
Thalamus  Section images heterozygote 100% (2 of 2)
Thymus  Section images heterozygote 100% (2 of 2)
Trachea  Section images heterozygote 50% (1 of 2)
Urinary bladder  Section images heterozygote 100% (2 of 2)
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta 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)
Epididymis N/A heterozygote 0.0% (0 of 2)
Esophagus 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)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas 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)
Small intestine 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)
Thyroid gland 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)
Embryo N/A homozygote Ambiguous
Brain N/A heterozygote 0.0% (0 of 2)
Brain N/A homozygote Ambiguous
Dorsal root ganglion N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Ear N/A heterozygote 100% (2 of 2)
Ear N/A homozygote Ambiguous
Eye N/A heterozygote 100% (2 of 2)
Eye N/A homozygote Ambiguous
Footplate N/A heterozygote 0.0% (0 of 2)
Footplate N/A homozygote Ambiguous
Forebrain N/A heterozygote 0.0% (0 of 2)
Forebrain N/A homozygote Ambiguous
Forelimb N/A heterozygote 50% (1 of 2)
Forelimb N/A homozygote Ambiguous
Fronto-nasal process N/A heterozygote Ambiguous
N/A Ambiguous
Handplate N/A heterozygote 0.0% (0 of 2)
Handplate N/A homozygote Ambiguous
Head N/A heterozygote 100% (2 of 2)
Head N/A homozygote Ambiguous
Heart N/A heterozygote 50% (1 of 2)
Heart N/A homozygote Ambiguous
Hindbrain N/A heterozygote 0.0% (0 of 2)
Hindbrain N/A homozygote Ambiguous
Hindlimb N/A heterozygote 50% (1 of 2)
Hindlimb N/A homozygote Ambiguous
Inner ear N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Liver N/A heterozygote 0.0% (0 of 2)
Liver N/A homozygote Ambiguous
Lung N/A heterozygote 0.0% (0 of 2)
Lung N/A homozygote Ambiguous
Mandibular process N/A heterozygote 100% (2 of 2)
Mandibular process N/A homozygote Ambiguous
Maxillary process N/A heterozygote 50% (1 of 2)
Maxillary process N/A homozygote Ambiguous
Midbrain N/A heterozygote 0.0% (0 of 2)
Midbrain N/A homozygote Ambiguous
Nose N/A heterozygote 0.0% (0 of 1)
N/A Ambiguous
Notochord N/A heterozygote Ambiguous
N/A Ambiguous
Oral cavity N/A heterozygote Ambiguous
Oral cavity N/A homozygote Ambiguous
N/A heterozygote 100% (1 of 1)
N/A Ambiguous
Skin N/A heterozygote 100% (2 of 2)
Skin N/A homozygote Ambiguous
Spinal cord N/A heterozygote 0.0% (0 of 2)
N/A Ambiguous
Tail somite N/A heterozygote 0.0% (0 of 2)
Tail somite N/A homozygote Ambiguous
Tail N/A heterozygote 50% (1 of 2)
Tail N/A homozygote Ambiguous

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

Anatomy Background staining in controls (WT)
adrenal gland 0.7% (4 of 573)
aorta 0.18% (1 of 571)
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
epididymis 13.08% (17 of 130)
esophagus 1.8% (7 of 389)
eye 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
midbrain 0.0%
olfactory lobe 0.18% (1 of 553)
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
submandibular gland 1.56% (2 of 128)
testis 1.05% (6 of 572)
thalamus 0.0%
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
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)
brain 1.18% (6 of 508)
dorsal root ganglion 1.67% (1 of 60)
ear 0.2% (1 of 508)
embryo 0.2% (1 of 509)
eye 0.2% (1 of 508)
footplate 0.2% (1 of 508)
forebrain 0.2% (1 of 508)
forelimb 0.2% (1 of 508)
fronto-nasal process 1.64% (1 of 61)
handplate 0.2% (1 of 508)
head 0.98% (5 of 508)
heart 0.2% (1 of 508)
hindbrain 1.18% (6 of 508)
hindlimb 0.2% (1 of 508)
inner ear 1.56% (1 of 64)
liver 0.2% (1 of 503)
lung 0.2% (1 of 503)
mandibular process 0.2% (1 of 508)
maxillary process 0.2% (1 of 508)
midbrain 0.2% (1 of 508)
nose 1.28% (1 of 78)
notochord 1.67% (1 of 60)
oral cavity 0.2% (1 of 503)
pericardium 1.82% (1 of 55)
skin 0.2% (1 of 508)
spinal cord 1.39% (1 of 72)
tail 0.2% (1 of 508)
tail somite group 0.2% (1 of 508)

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

13 Images

X-ray

XRay Images Skull Lateral Orientation

13 Images

Adult LacZ

LacZ Images Section

27 Images

X-ray

XRay Images Whole Body Dorso Ventral

13 Images

Sleep Wake

Wake state (bmp file)

15 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

13 Images

Embryo LacZ

LacZ images wholemount

12 Images

Eye Morphology

Images Ophthalmoscopy

5 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

Auditory Brain Stem Response

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

9 Images

Electroretinography

Rod waveform (pdf format)

4 Images

Electroretinography

Cone waveform (pdf format)

4 Images

Human diseases caused by Sh3tc2 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 Sh3tc2 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Prolonged brainstem au... OMIM:601596
Mononeuropathy Of The Median Nerve, Mild
Peripheral axonal neuropathy OMIM:613353
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Optic atrophy, Frequent falls, Vocal cord paresis, Fac... ORPHA:99949

The table below shows human diseases predicted to be associated to Sh3tc2 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Acti... OMIM:180800
3-Hydroxy-3-Methylglutaryl-Coa Synthase Deficiency
Hypoglycemia ORPHA:35701
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Frequent falls, Dec... OMIM:611228
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Abnormality of so... ORPHA:206594
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, CNS hypomye... ORPHA:280234
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Demyelinating... ORPHA:208981
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, CNS demyelination, Peripheral demyelination, Hemiparesis, Ataxia OMIM:165200
Glucocorticoid Deficiency 3
Recurrent hypoglycemia OMIM:609197
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... OMIM:601098
Optic Atrophy 2
Tremor, Optic atrophy, Dysdiadochokinesis, Babinski sign OMIM:311050
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... OMIM:605285
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy, Abnormal autonomic nervous sys... DECIPHER:59
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Ax... OMIM:609260
Hyperinsulinemic Hypoglycemia, Familial, 7
Hyperinsulinemic hypoglycemia, Hypoglycemic seizures, Hypoglycemia, Hyperinsulinemia OMIM:610021
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... OMIM:619279
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Bradykinesia, Decreased nerve conduction velocity, Fasciculations, Ataxia, Spasticity OMIM:183050
Maturity-Onset Diabetes Of The Young, Type 3
Hyperglycemia, Maturity-onset diabetes of the young, Type II diabetes mellitus OMIM:600496
Monomelic Amyotrophy
Tremor, Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... ORPHA:2932
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination, Arrhythmia ORPHA:99944
Autosomal Recessive Spastic Paraplegia Type 57
Optic atrophy, Babinski sign, Abnormal myelination, Spastic paraplegia, Spasticity, Abnormality o... ORPHA:431329
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... OMIM:606482
Early-Onset X-Linked Optic Atrophy
Babinski sign, Optic atrophy, Optic disc pallor, Choreoathetosis, Decreased nerve conduction velo... ORPHA:98890
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic p... OMIM:182815
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, CNS demyelination, Peripheral demyelination, Decreased nerve conduction velocity, ... OMIM:249900
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Triose Phosphate-Isomerase Deficiency
Hypertrophic cardiomyopathy, Diaphragmatic paralysis, Decreased nerve conduction velocity ORPHA:868
Autosomal Recessive Spastic Paraplegia Type 71
Babinski sign, Abnormal myelination, Hand tremor, Spastic gait, Lower limb spasticity, Progressiv... ORPHA:401840
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... OMIM:118200
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal neuropathy, Frequent ... OMIM:600361
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Glycogen Storage Disease 0, Liver
Fasting hypoglycemia, Postprandial hyperglycemia, Neonatal hypoglycemia OMIM:240600
Giant Axonal Neuropathy 2, Autosomal Dominant
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ca... OMIM:610100
Cataract-Ataxia-Deafness Syndrome
Tremor, Ataxia, Hypertonia, Decreased nerve conduction velocity ORPHA:1368
Neuronopathy, Distal Hereditary Motor, Type Vc
Chaddock reflex, Babinski sign, Decreased compound muscle action potential amplitude, Frequent falls OMIM:619112
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Frequent falls OMIM:618279
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Peripheral axonal neuropathy, Paraparesis ORPHA:231445
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Prolonged brainstem au... OMIM:601596
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... OMIM:118220
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Optic atrophy, Progressive spasticity, Babinski sign, ... OMIM:608804
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:615376
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Leukodystrophy, Hypomyelinating, 18
Progressive spasticity, Babinski sign, Dysmetria, Abnormal motor nerve conduction velocity, Decre... OMIM:618404
Hyperproinsulinemia
Hyperglycemia, Hyperinsulinemia OMIM:616214
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Irregular myelin loops, Abnormal auditory evoked poten... OMIM:601382
Charcot-Marie-Tooth Disease, Axonal, Type 2O
Decreased motor nerve conduction velocity, Frequent falls OMIM:614228
Hyperinsulinemic Hypoglycemia, Familial, 2
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:601820
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Charcot-Marie-Tooth Disease, Type 4A
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... OMIM:214400
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Axonal loss, Peripheral demyelination, Myoclonus, Gliosis, EEG abnormality, Apraxi... OMIM:221770
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Parkinsonism, Axonal loss, Rigidity, Chorea, Peripheral demyelination, Abnormality of extrapyrami... OMIM:617672
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Hypoketotic hypoglycemia, Neonatal hypoglycemia, Abnormal circulating insulin level, Nonketotic h... ORPHA:293964
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Peripheral axonal neuropathy, Tremor, Ataxia, Spasticity OMIM:611105
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... OMIM:609311
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Gliosis, Axonal degeneration, Fasciculations, Tetraplegia, Decreased number of perip... OMIM:604484
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Epilepsy, Familial Adult Myoclonic, 1
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, EEG with photoparoxysmal ... OMIM:601068
X-Linked Charcot-Marie-Tooth Disease Type 4
Tremor, Ataxia, Decreased nerve conduction velocity ORPHA:101078
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Hyperinsulinism Due To Insr Deficiency
Hypoglycemia, Insulin resistance, Hyperinsulinemic hypoglycemia, Recurrent hypoglycemia, Fasting ... ORPHA:263458
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Orthostatic hypotension, Atrioventricular block, Gliosis, Decreased nerve conduction... OMIM:118301
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, EEG with generalized slow activity, Hypertonia, Slurred speech, Tetraparesis, Decreas... ORPHA:2386
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... ORPHA:90103
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Maturity-Onset Diabetes Of The Young, Type 10
Hyperglycemia, Diabetic ketoacidosis, Maturity-onset diabetes of the young, Diabetes mellitus OMIM:613370
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Frequent falls, Torticollis, Dysmetria, Peripheral demyelination, Chorea, ... ORPHA:397946
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... OMIM:608340
Familial Progressive Cardiac Conduction Defect
Syncope, Heart block, Bundle branch block, Congestive heart failure, Arrhythmia ORPHA:871
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... ORPHA:497764
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Brain atrophy, Decreased nerve conduction velocity OMIM:615284
Progressive Familial Heart Block, Type Ia
Syncope, Complete heart block with broad QRS complexes, Left anterior fascicular block, Right bun... OMIM:113900
Krabbe Disease
Progressive spasticity, Optic atrophy, CNS demyelination, Peripheral demyelination, Decreased ner... OMIM:245200
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:145900
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Leukodystrophy, Tremor, Ataxia, Spasticity, Hemiple... OMIM:614561
Neuronopathy, Distal Hereditary Motor, Type Vb
Decreased motor nerve conduction velocity OMIM:614751
X-Linked Charcot-Marie-Tooth Disease Type 1
Tremor, Abnormal nerve conduction velocity, Ataxia ORPHA:101075
Charcot-Marie-Tooth Disease, Type 4D
Onion bulb formation, Axonal loss, Abnormal auditory evoked potentials, Decreased nerve conductio... OMIM:601455
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Babinski sign, Clonus, Sensory axonal neuropathy, Spas... ORPHA:139578
X-Linked Charcot-Marie-Tooth Disease Type 6
Hand tremor, Decreased nerve conduction velocity ORPHA:352675
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Clonus, Peripheral axonal neuropathy, Babinski sign, Spastic... OMIM:615035
Dwarfism, Low-Birth-Weight Type, With Unresponsiveness To Growth Hormone
Hypoglycemia OMIM:223500
Neuronopathy, Distal Hereditary Motor, Type Iid
Decreased motor nerve conduction velocity, Fasciculations OMIM:615575
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Decreased motor nerve conduction velocity, Cerebellar atrophy, Cerebral hypomyelination, Facial p... OMIM:601170
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, ... OMIM:302800
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal ... OMIM:252320
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Acute dem... ORPHA:101081
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:600882
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Peripheral axonal neuropathy, Abnormal motor evoked potentials, Decreased nerve conduction veloci... ORPHA:99939
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity OMIM:605589
Charcot-Marie-Tooth Disease Type 4A
Poor gross motor coordination, Motor conduction block, Decreased number of large peripheral myeli... ORPHA:99948
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Clumsiness, Postural tremor, Babinski sign, Frequent f... ORPHA:3115
Wild Type Abeta2M Amyloidosis
Axonal loss, Decreased nerve conduction velocity, Decreased amplitude of sensory action potential... ORPHA:85446
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:604563
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Babinski sign, Chorea,... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Babinski sign, Dysmetria, Myoclonus, Decreased nerve conduction velocity, Intention tremor, Ataxi... OMIM:618356
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Peripheral demyelination, Axonal loss OMIM:616684
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tremor, Spastic parapare... ORPHA:101077
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Syncope, Rigidity, Decreased sensory nerve conduction ... OMIM:603472
Fructose And Galactose Intolerance
Hypoglycemia OMIM:229500
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials OMIM:618912
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Motor axonal neuropathy, Decreased nerve conduction velocity, Sensory axonal neuro... ORPHA:457205
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Orthostatic hypotension due to autonomic dysfunction, Symmetric peripheral demyeli... OMIM:169500
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Fasciculations OMIM:606595
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:162400
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... ORPHA:98769
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy ORPHA:98916
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus, Enhancement of the C-reflex, Jerk-locked premyoclonus spikes OMIM:615127
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Frequent falls, Peripheral demyelination, Vocal cord... ORPHA:101097
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Peripheral axonal neuropathy, Decreased nerve conduction velocity ORPHA:101082
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Brugada Syndrome
Paroxysmal ventricular tachycardia, Syncope, Ventricular arrhythmia, Supraventricular tachycardia... ORPHA:130
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Epilepsy, Progressive Myoclonic, 1B
Dysmetria, Babinski sign, Tremor, Sensory axonal neuropathy OMIM:612437
Autosomal Recessive Spastic Paraplegia Type 21
Abnormality of extrapyramidal motor function, Apraxia, Spasticity, Abnormality of peripheral nerv... ORPHA:101001
Tremor, Hereditary Essential, 6
Postural tremor, Head tremor, Kinetic tremor, Vocal tremor OMIM:618866
Tremor, Hereditary Essential, 5
Postural tremor, Tongue tremor, Kinetic tremor, Intention tremor OMIM:616736
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Paraparesis, Tremor, Ataxia, Abnormal nerve conduction velocity ORPHA:99014
Autosomal Dominant Spastic Paraplegia Type 17
Postural tremor, Babinski sign, Spastic gait, Abnormal motor nerve conduction velocity ORPHA:100998
Leukodystrophy, Hypomyelinating, 11
Tremor, Ataxia, Leukodystrophy, Spasticity OMIM:616494
Lower Motor Neuron Syndrome With Late-Adult Onset
Tremor, Tongue fasciculations, Abnormal sensory nerve conduction velocity, Fasciculations ORPHA:276435
Epilepsy, Familial Adult Myoclonic, 3
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:613608
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy OMIM:613287
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Optic atrophy, Babinski sign, Dysmetria, Decreased nerve conduction velocity, Intention tremor, A... OMIM:612674
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, Spastic paraplegia OMIM:309560
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Incessant Infant Ventricular Tachycardia
Abnormal P wave, Histiocytoid cardiomyopathy, Ventricular tachycardia, Supraventricular tachycard... ORPHA:45453
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... OMIM:614436
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity OMIM:607678
Combined Oxidative Phosphorylation Deficiency 13
Leukodystrophy, Decreased nerve conduction velocity, Choreoathetosis OMIM:614932
Charcot-Marie-Tooth Disease Type 2B1
Decreased motor nerve conduction velocity, Axonal loss, Decreased number of large peripheral myel... ORPHA:98856
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Impaired gluconeogenesis, Hypoglycemia OMIM:261650
Isolated Growth Hormone Deficiency, Type Ia
Hypoglycemia OMIM:262400
Cardiomyopathy, Dilated, 1E
Dilated cardiomyopathy, Syncope, Premature ventricular contraction, Atrial standstill, Atrial fib... OMIM:601154
Mitochondrial Complex Iii Deficiency, Nuclear Type 3
Hypoglycemia OMIM:615158
Spinocerebellar Ataxia 10
Dysmetria, Abnormality of extrapyramidal motor function, Decreased nerve conduction velocity, Pro... OMIM:603516
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Truncal titubatio... OMIM:610532
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity OMIM:302801
Mitochondrial Complex I Deficiency, Nuclear Type 15
Hypertrophic cardiomyopathy, Optic atrophy, Peripheral demyelination, Spastic tetraplegia OMIM:618237
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Gait ataxia OMIM:258650
Autosomal Recessive Spastic Paraplegia Type 69
Hand tremor, Abnormal myelination, Cerebral cortical atrophy ORPHA:401830
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Peripheral axonal neuropathy, Frequent falls, Myoclonus, Fasciculations, Tremor, A... OMIM:607317
Macular Degeneration, Age-Related, 3
Peripheral axonal neuropathy, Decreased nerve conduction velocity OMIM:608895
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, EEG abnormality, Cerebral atrophy OMIM:610951
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Adult Krabbe Disease
Clumsiness, Babinski sign, Prolonged brainstem auditory evoked potentials, Hoffmann sign, CNS dem... ORPHA:206448
Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/Or Dilated Cardiomyopathy
Dilated cardiomyopathy, Syncope, Atrial standstill, Ventricular tachycardia, Atrioventricular blo... OMIM:604772
Spastic Ataxia, Charlevoix-Saguenay Type
Onion bulb formation, Decreased motor nerve conduction velocity, Babinski sign, Decreased number ... OMIM:270550
Ataxia-Deafness-Intellectual Disability Syndrome
Ataxia, Decreased nerve conduction velocity ORPHA:1188
Glutathionuria
Tremor OMIM:231950
Late-Infantile/Juvenile Krabbe Disease
Clumsiness, Prolonged brainstem auditory evoked potentials, Frequent falls, Decreased nerve condu... ORPHA:206443
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 2
Decreased motor nerve conduction velocity, Babinski sign OMIM:605726
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Paraparesis OMIM:302802
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
CNS demyelination, Peripheral demyelination, Gliosis, Tremor, Ataxia OMIM:220111
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Limb ataxia, Gait ataxia OMIM:617018
Hyperinsulinism Due To Glucokinase Deficiency
Type II diabetes mellitus, Hypoketotic hypoglycemia, Hyperinsulinemic hypoglycemia, Recurrent hyp... ORPHA:79299
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Ataxia, Babinski sign OMIM:608703
Autosomal Recessive Spastic Paraplegia Type 67
Limb tremor, Abnormal myelination, Cerebral cortical atrophy ORPHA:401820
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Facial diplegia OMIM:618184
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Post... ORPHA:99950
Leukoencephalopathy, Progressive, With Ovarian Failure
Tremor, Neurodegeneration, Cerebellar atrophy OMIM:615889
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Ataxia-Pancytopenia Syndrome
Babinski sign, Dysmetria, Decreased nerve conduction velocity, Ataxia, Ankle clonus OMIM:159550
Long Qt Syndrome 13
Syncope, Hypertension, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Tachyc... OMIM:613485
Tremor, Hereditary Essential, 1
Postural tremor, Hand tremor, Action tremor OMIM:190300
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Peripheral demyelination ORPHA:71211
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Dilated cardiomyopathy, Syncope, Atrial fibrillation, Ventricular arrhythmia, Cardiac conduction ... ORPHA:300751
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Spinocerebellar Ataxia 18
Babinski sign, Dysmetria, Progressive gait ataxia, Sensory axonal neuropathy, Tremor, Dysdiadocho... OMIM:607458
Heart-Hand Syndrome, Slovenian Type
Dilated cardiomyopathy, Abnormal atrioventricular conduction, Abnormal electrophysiology of sinoa... ORPHA:168796
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Arrhythmia ORPHA:2928
Metachromatic Leukodystrophy
Babinski sign, Optic atrophy, Chorea, Peripheral demyelination, Decreased nerve conduction veloci... OMIM:250100
Spinocerebellar Ataxia Type 25
Babinski sign, Decreased number of large peripheral myelinated nerve fibers, Spastic dysarthria, ... ORPHA:101111
Long Qt Syndrome 10
T-wave alternans, Prolonged QT interval, Atrial fibrillation, Atrioventricular block, Sudden card... OMIM:611819
Combined Oxidative Phosphorylation Deficiency 36
Hypoglycemia OMIM:617950
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Abnormal autonomic nervous system physiology, Peripheral demyelination, Absent brainstem auditory... OMIM:609136
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Babinski sign, Clonus, Peripheral axonal neuropathy, S... OMIM:256840
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Decreased compound muscle action potential amplitude, Compound muscle action potential amplitude ... OMIM:616040
Insulin Autoimmune Syndrome
Fasting hypoglycemia, Insulin resistance, Insulin-resistant diabetes mellitus, Hyperinsulinemic h... ORPHA:411593
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Ax... OMIM:218000
Atrial Standstill
Syncope, Abnormal P wave, Atrial standstill, Hemiplegia, Reduced ejection fraction, Ventricular e... ORPHA:1344
Abetalipoproteinemia
Ataxia, Peripheral demyelination, CNS demyelination OMIM:200100
Galloway-Mowat Syndrome 5
Ataxia, Peripheral demyelination, Spasticity OMIM:617731
Atrial Standstill 1
Atrial standstill, Ventricular escape rhythm, Atrial cardiomyopathy, First degree atrioventricula... OMIM:108770
Atrophoderma Vermiculata
Heart block, Neurofibromas ORPHA:79100
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... OMIM:602433
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Tremor OMIM:300660
Brugada Syndrome 1
Syncope, Atrial fibrillation, Supraventricular tachycardia with an accessory connection mediated ... OMIM:601144
Language Delay And Attention Deficit-Hyperactivity Disorder/Cognitive Impairment With Or Without Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia, Poor fine motor coordination OMIM:617182
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Premature ventricular contraction, Sinus bradycardia, Atrial fibrillation... OMIM:616117
Autosomal Recessive Spastic Paraplegia Type 70
Hand tremor, Abnormal myelination ORPHA:401835
Parkinsonism With Spasticity, X-Linked
Babinski sign, Cogwheel rigidity, Bradykinesia, Resting tremor, Spasticity, Parkinsonism OMIM:300911
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Ataxia, Peripheral axonal neuropathy OMIM:619099
Ataxia, Spastic, Childhood-Onset, Autosomal Recessive, With Optic Atrophy And Mental Retardation
Clumsiness, Optic atrophy, Babinski sign, Poor coordination, Dysmetria, Spastic ataxia, Tremor, A... OMIM:270500
Parkinson Disease 22, Autosomal Dominant
Orthostatic hypotension, Resting tremor, Bradykinesia, Tremor OMIM:616710
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Myoclonus, Tremor OMIM:611092
Spinocerebellar Ataxia Type 1
Postural tremor, Optic atrophy, Abnormality of somatosensory evoked potentials, Dysmetria, Chorea... ORPHA:98755
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication OMIM:314250
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Hypoglycemia ORPHA:366
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Multifocal Motor Neuropathy
Motor conduction block, Fasciculations ORPHA:641
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Hemiballismus OMIM:616921
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Axonal degeneration, Decreased nerve conduction velocity OMIM:618138
Sick Sinus Syndrome 4
Syncope, Abnormal QRS complex, Sinus bradycardia, Abnormal PR interval, Atrioventricular block, A... OMIM:619464
Short Stature Due To Partial Ghr Deficiency
Hypoglycemia ORPHA:314802
Progressive Familial Heart Block, Type Ib
Syncope, Prolonged QT interval, Atrioventricular block, Left anterior fascicular block, Bradycard... OMIM:604559
Atrial Septal Defect, Sinus Venosus Type
Left-to-right shunt, Atrial fibrillation, Systolic heart murmur, Cardiac conduction abnormality, ... ORPHA:99105
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Abnormal left ventricular function, Cardiomyopathy, Heart block ORPHA:98912
Friedreich Ataxia
Hypertrophic cardiomyopathy, Optic atrophy, Abnormal echocardiogram, Babinski sign, Decreased sen... OMIM:229300
Spinocerebellar Ataxia Type 31
Tremor, Gait ataxia, Spasticity ORPHA:217012
Spinocerebellar Ataxia 23
Babinski sign, CNS demyelination, Dysmetria, Tremor, Limb ataxia, Gait ataxia OMIM:610245
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Tremor, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial nerve,... ORPHA:90117
Developmental And Epileptic Encephalopathy 97
Tremor, Stereotypical hand wringing, Hypsarrhythmia OMIM:619561
Parkinson Disease 15, Autosomal Recessive Early-Onset
Babinski sign, Rigidity, Scissor gait, Abnormality of extrapyramidal motor function, Lower limb s... OMIM:260300
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Gliosis, Decreased nerve conduction velocity, Spastic tetraplegia, Ataxia, Abnorma... OMIM:256600
Parkinson Disease 2, Autosomal Recessive Juvenile
Rigidity, Bradykinesia, Tremor, Substantia nigra gliosis, Parkinsonism OMIM:600116
Spinocerebellar Ataxia Type 20
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Atax... ORPHA:101110
Charcot-Marie-Tooth Disease Type 1F
Decreased number of large peripheral myelinated nerve fibers, Hand tremor, Optic nerve hypoplasia... ORPHA:101085
Autosomal Recessive Spastic Paraplegia Type 25
Abnormality of peripheral nerve conduction, Spastic paraplegia, Paraparesis ORPHA:101005
Brugada Syndrome 2
Syncope, Right bundle branch block, First degree atrioventricular block, Ventricular fibrillation... OMIM:611777
Coenzyme Q10 Deficiency, Primary, 8
Hypertension, Peripheral demyelination OMIM:616733
Spastic Paraparesis And Deafness
Tremor, Spastic paraparesis OMIM:312910
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Frequent falls ORPHA:494526
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Tremor, Ataxia, Incoordination, Abnormal pyramidal sign, Wolff-Parkinson-White syn... OMIM:614947
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... OMIM:606070
Spinocerebellar Ataxia 37
Tremor, Ataxia, Frequent falls OMIM:615945
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Neurodegeneration, Tremor, Cerebral atrophy, Abnormal autonomic nervous syste... OMIM:300894
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism ORPHA:401901
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity ORPHA:139536
Atrial Septal Defect-Atrioventricular Conduction Defects Syndrome
Arrhythmia, Bundle branch block ORPHA:1479
Posterior Column Ataxia With Retinitis Pigmentosa
Decreased sensory nerve conduction velocity, Peripheral demyelination, Ataxia, Optic atrophy OMIM:609033
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Peripheral axonal neuropathy, Poor fine motor coordination, Decreased nerve conduction velocity, ... ORPHA:435387
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Hypoglycemia, Leucine-Induced
Hyperinsulinemic hypoglycemia, Hypoglycemia OMIM:240800
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Rigidity OMIM:610297
Congenital Heart Defects, Multiple Types, 3
Atrial fibrillation, Atrioventricular dissociation, Atrioventricular block, Tachycardia, Right bu... OMIM:614954
Progressive Familial Heart Block, Type Ii
Syncope, Sinus bradycardia, Atrioventricular block, Complete heart block with narrow QRS complexe... OMIM:140400
Cardiomyopathy, Dilated, 1G
Dilated cardiomyopathy, Reduced ejection fraction, Atrial fibrillation, Ventricular tachycardia, ... OMIM:604145
Behr Syndrome
Progressive spasticity, Optic atrophy, Babinski sign, Dysmetria, Tremor, Ataxia OMIM:210000
Long Qt Syndrome 14
T-wave alternans, Sinus bradycardia, Prolonged QT interval, Atrioventricular block, Prolonged QTc... OMIM:616247
Cednik Syndrome
Abnormality of peripheral nerve conduction, Optic atrophy, Ataxia, Congestive heart failure ORPHA:66631
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... OMIM:611302
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Rigidity, Choreoathetosis, Cerebral hypomyelination, Leukodystrophy, Tremor, Ataxi... OMIM:612438
Sick Sinus Syndrome 1
Sinus bradycardia, Prolonged QT interval, Ventricular escape rhythm, Atrioventricular block, Abse... OMIM:608567
Hyperphenylalaninemia, Bh4-Deficient, D
Tremor, Hypertonia OMIM:264070
Metachromatic Leukodystrophy, Juvenile Form
Clumsiness, Optic atrophy, Babinski sign, Frequent falls, Leukodystrophy, Decreased nerve conduct... ORPHA:309263
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Axonal degeneration, Decreased nerve conduction velocity, Degener... OMIM:604320
Riboflavin Deficiency
Hypoglycemia OMIM:615026
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor OMIM:614369
Adult-Onset Distal Myopathy Due To Vcp Mutation
Frequent falls, Facial diplegia, Decreased nerve conduction velocity, Fasciculations, Tremor, Par... ORPHA:329478
Cardiomyopathy, Familial Hypertrophic, 13
Hypertrophic cardiomyopathy, Syncope, Atrial fibrillation, ST segment depression, Left anterior f... OMIM:613243
Tremor, Hereditary Essential, 4
Postural tremor, Action tremor OMIM:614782
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Optic disc pallor, Dysme... OMIM:164400
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... ORPHA:79262
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor OMIM:611808
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Spastic tetraplegia OMIM:615663
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Ventricular Tachycardia, Familial
Paroxysmal ventricular tachycardia, Sudden cardiac death, Right bundle branch block OMIM:192605
Long-Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Hypoglycemia OMIM:609016
Combined Oxidative Phosphorylation Defect Type 13
Lower limb hypertonia, Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis ORPHA:319514
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Dysmetria, Motor axonal neuropathy, Intention tremor, Ataxia, Abnormality of peripheral nerve con... ORPHA:48431
Tangier Disease
Myocardial infarction, Facial diplegia, Peripheral demyelination, Peripheral axonal neuropathy OMIM:205400
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Brain atrophy, Abnormal myelination, Cerebral atrophy ORPHA:85179
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Tremor, Peripheral axonal neuropathy OMIM:616668
Epilepsy, Familial Adult Myoclonic, 2
Jerk-locked premyoclonus spikes, Giant somatosensory evoked potentials, Myoclonus, EEG with photo... OMIM:607876
Orthostatic Hypotension 2
Hypoglycemia OMIM:618182
Diaminopentanuria
Neurodegeneration OMIM:222350
Familial Short Qt Syndrome
Syncope, Shortened QT interval, Atrial fibrillation, Ventricular arrhythmia, Palpitations, Atriov... ORPHA:51083
Idiopathic Neonatal Atrial Flutter
Abnormal QRS complex, Reduced ejection fraction, Supraventricular tachycardia, Abnormal atriovent... ORPHA:45452
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Ataxia, Ankle clonus, Spastic pa... OMIM:604360
Metachromatic Leukodystrophy, Adult Form
Clumsiness, Optic atrophy, Babinski sign, Orthostatic hypotension due to autonomic dysfunction, F... ORPHA:309271
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Poor coordination, Decreased nerve conduction velocity, Spasticity, Abnormal pyramidal si... OMIM:238970
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Dysmetria, Chorea, Abnormality of extrapyramidal motor function, Tr... OMIM:164500
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Decreased number of large peripheral myelinated nerve fibers, Cho... OMIM:208920
Migraine, Familial Hemiplegic, 1
Tremor, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Atypical Pantothenate Kinase-Associated Neurodegeneration
Clumsiness, Optic atrophy, Parkinsonism, Rigidity, Frequent falls, Chorea, Tremor, Spasticity, Up... ORPHA:216873
Glycogen Storage Disease Ixa1
Hypoglycemia OMIM:306000
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased sensory nerve conduction velocity, Decreased number of peripheral myelinated nerve fibe... OMIM:201300
Cardiomyopathy, Dilated, 1A
Dilated cardiomyopathy, Third degree atrioventricular block, Sinus bradycardia, Atrial fibrillati... OMIM:115200
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Axonal loss, Dysmetria, Tremor, Ataxia, Tongue fasciculations OMIM:618170
Glycogen Storage Disease Xv
Ventricular arrhythmia, Right bundle branch block OMIM:613507
Spinocerebellar Ataxia Type 38
Tremor, Gait ataxia ORPHA:423296
Friedreich Ataxia
Decreased motor nerve conduction velocity, Optic atrophy, Babinski sign, Impaired visually enhanc... ORPHA:95
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Frequent falls, Myoclonus, Facial palsy, Fasciculations, Tremor, Tongue fasciculations, Degenerat... OMIM:159950
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Tremor by anatomical site, Bradykinesia, Intention tremor, Limb dy... ORPHA:98762
Metachromatic Leukodystrophy, Late Infantile Form
Clumsiness, Optic atrophy, Babinski sign, Frequent falls, Leukodystrophy, Decreased nerve conduct... ORPHA:309256
Combined Oxidative Phosphorylation Defect Type 39
Involuntary movements, Babinski sign, Optic disc pallor, Limb hypertonia, Decreased nerve conduct... ORPHA:565624
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Bradykinesia, Ri... OMIM:607688
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia OMIM:615362
Cardiomyopathy, Familial Hypertrophic, 10
Hypertrophic cardiomyopathy, Systolic anterior motion of the mitral valve, Ventricular tachycardi... OMIM:608758
Cardiomyopathy, Familial Hypertrophic, 6
Hypertrophic cardiomyopathy, Sinus bradycardia, Atrial fibrillation, Ventricular preexcitation, A... OMIM:600858
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Tremor, Myoclonus, Prolonged somatosensory evoked potentials OMIM:608105
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Peripheral axonal neuropathy, Dysmetria, Tremor, Ataxia, Gait ataxia OMIM:618387
Sialidosis Type 1
Myoclonus, Decreased nerve conduction velocity, Tremor, Ataxia, Slurred speech, EEG abnormality ORPHA:812
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Ataxia, Cardiac arrest OMIM:618951
Congenital Disorder Of Glycosylation With Defective Fucosylation 2
Optic atrophy, Cerebellar atrophy, Abnormal myelination OMIM:618324
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity OMIM:118300
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Decreased nerve conduction velocity ORPHA:397744
Dystonia, Dopa-Responsive
Postural tremor, Babinski sign, Torticollis, Bradykinesia, Cogwheel rigidity, Parkinsonism with f... OMIM:128230
Pelizaeus-Merzbacher Disease
Optic atrophy, Sudanophilic leukodystrophy, Head titubation, Choreoathetosis, Abnormal CNS myelin... OMIM:312080
Aicardi-Goutieres Syndrome 6
Tremor, Leukodystrophy, Rigidity OMIM:615010
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Ataxia, Spasticity, Delayed CNS myelination OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive 16
Babinski sign, Tremor, Truncal ataxia, Spasticity, Ankle clonus, Limb ataxia OMIM:615768
Autosomal Dominant Spastic Ataxia Type 1
Babinski sign, Spastic gait, Spastic dysarthria, Lower limb spasticity, Spastic ataxia, Tremor, H... ORPHA:251282
Familial Dilated Cardiomyopathy
Reduced ejection fraction, Atrial fibrillation, Mitral regurgitation, Palpitations, Ventricular a... ORPHA:217607
Molybdenum Cofactor Deficiency, Complementation Group B
Axonal loss, Opisthotonus, Myoclonic spasms, Peripheral demyelination, Gliosis, Spastic tetrapleg... OMIM:252160
Spinal Muscular Atrophy, Jokela Type
Tremor, Fasciculations OMIM:615048
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Decreased distal sensory nerve action potential, Peripheral axonal neuropathy OMIM:618400
Myopathy, Myofibrillar, 1
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Third degree atrioventricular block, Restric... OMIM:601419
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Facial palsy OMIM:607684
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Myoclonus, Tremor, EEG with polyspike wave complexes, Truncal ataxia, Gait ataxia, EEG wi... OMIM:618587
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Cardiomyopathy, Abnormal pyramidal sign ORPHA:93476
Parkinson Disease 19A, Juvenile-Onset
Rigidity, Bradykinesia, Abnormal pyramidal sign, Tremor, Spasticity, Parkinsonism OMIM:615528
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Spasticity OMIM:614307
Paralysis Agitans, Juvenile, Of Hunt
Tremor, Parkinsonism, Bradykinesia, Rigidity OMIM:168100
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Babinski sign, Optic neuropathy, Optic disc pallor, Ha... ORPHA:101076
Lichtenstein-Knorr Syndrome
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia OMIM:616291
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Tremor, Ataxia, Stereotypy OMIM:617862
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Optic atrophy, EEG with focal epileptiform discharges,... ORPHA:1187
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Optic atrophy, Spastic tetraplegia, Abnormal pyramidal... OMIM:615419
Autosomal Recessive Spastic Paraplegia Type 55
Onion bulb formation, Optic atrophy, Optic neuropathy, Babinski sign, Decreased sensory nerve con... ORPHA:320375
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Peripheral axonal neuropathy, Optic disc pallor, Abnormality of extrapyramidal mot... ORPHA:320406
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle branch bloc... OMIM:618920
Intellectual Developmental Disorder With Cardiac Arrhythmia
Arrhythmia, Sick sinus syndrome, Bradycardia OMIM:617173
Heart-Hand Syndrome Type 3
Sick sinus syndrome, Bundle branch block ORPHA:1342
Diabetes Mellitus, Transient Neonatal, 3
Hyperglycemia, Maternal diabetes, Transient neonatal diabetes mellitus OMIM:610582
Long Qt Syndrome 16
T-wave alternans, Prolonged QTc interval, Bradycardia, Second degree atrioventricular block OMIM:618782
Multiple System Atrophy
Postural tremor, Parkinsonism, Orthostatic hypotension due to autonomic dysfunction, Rigidity, Fr... ORPHA:102
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Decreased nerve conduction velocity ORPHA:1933
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Chorea, Head tremor, Con... OMIM:606002
Spinocerebellar Ataxia Type 37
Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis, Truncal ataxia ORPHA:363710
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Neurodegeneratio... OMIM:612319
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Atrial fibrillation, Atrioventricular block, Supraventricular tachycardia... OMIM:612158
Infantile Krabbe Disease
Optic atrophy, Opisthotonus, Myoclonus, Decreased nerve conduction velocity, Lower limb spasticit... ORPHA:206436
Mitochondrial Complex Iii Deficiency, Nuclear Type 9
Hypoglycemia OMIM:616111
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Babinski sign, Frequent falls, Dysmetria, Peripheral demyelination, Lower limb spa... ORPHA:171629
Encephalopathy, Progressive, With Or Without Lipodystrophy
Myoclonus, Tremor, Ataxia, Tetraparesis, Spasticity, Abnormal pyramidal sign OMIM:615924
Inherited Creutzfeldt-Jakob Disease
Vestibular nystagmus, Clumsiness, Babinski sign, Abnormal autonomic nervous system physiology, Ch... ORPHA:282166
Mononeuropathy Of The Median Nerve, Mild
Peripheral axonal neuropathy OMIM:613353
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Vocal cord paralysis, Peripheral axonal n... OMIM:615490
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Babinski sign, Rigidity, Myoclonus, Bradykinesia, Tremor, Parkinsonism with favo... ORPHA:314632
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Rigidity, Tremor, Ataxia, Hypertonia, Spasticity ORPHA:33445
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude OMIM:619519
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Onion bulb formation, Axonal loss OMIM:614455
Dystonia 11, Myoclonic
Torticollis, Myoclonus, Tremor OMIM:159900
Yuan-Harel-Lupski Syndrome
Gait ataxia, Decreased nerve conduction velocity, Demyelinating peripheral neuropathy OMIM:616652
Brugada Syndrome 5
Ventricular fibrillation, ST segment elevation, Bundle branch block OMIM:612838
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... ORPHA:240103
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Spastic gait, Lower limb spasticity, Tremor, Spastic paraplegia OMIM:600363
Glutaric Acidemia I
Opisthotonus, Rigidity, Choreoathetosis, Symmetrical progressive peripheral demyelination, Spasti... OMIM:231670
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Progressive spastic paraplegia, Basal lamina onion bulb formation, Demyelinating pe... ORPHA:2821
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis, Abnormal autono... ORPHA:329284
Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia
Orthostatic hypotension, Peripheral axonal degeneration, Decreased number of peripheral myelinate... OMIM:608720
Glut1 Deficiency Syndrome 2
Tremor, Ataxia, EEG abnormality, Choreoathetosis OMIM:612126
Sneddon Syndrome
Cerebral hemorrhage, Hypertension, Facial palsy, Tremor, Hemiplegia, Ischemic stroke OMIM:182410
Chronic Atrial And Intestinal Dysrhythmia
Atrial fibrillation, Mitral regurgitation, Bradycardia, Pulmonic stenosis, Atrial flutter, Sick s... OMIM:616201
Dicarboxylic Aminoaciduria
Fasting hypoglycemia OMIM:222730
Spinocerebellar Ataxia Type 14
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia ORPHA:98763
Developmental Delay And Seizures With Or Without Movement Abnormalities
Rigidity, Bradykinesia, Tremor, Ataxia, EEG abnormality OMIM:617836
Giant Axonal Neuropathy 1, Autosomal Recessive
Motor axonal neuropathy, Facial palsy, Abnormal pyramidal sign, Sensory axonal neuropathy, Spasti... OMIM:256850
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, Bundle branch block OMIM:615616
Homozygous 11P15-P14 Deletion Syndrome
Hypoglycemia, Hyperinsulinemia OMIM:606528
Bundle Branch Block, Familial Isolated Complete Right
Right bundle branch block OMIM:113950
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Spastic p... OMIM:619026
Trigeminal Neuralgia
Peripheral demyelination, Cranial nerve compression, CNS demyelination ORPHA:221091
Infantile Neuroaxonal Dystrophy
Progressive spasticity, Optic atrophy, Diffuse axonal swelling, Peripheral axonal neuropathy, Cer... ORPHA:35069
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Abnormal lower m... ORPHA:2590
Parkinson Disease 17
Rigidity, Bradykinesia, Tremor, Resting tremor, Parkinsonism OMIM:614203
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Hypertonia, Myoclonus, Choreoathetosis OMIM:261630
Cardiomyopathy, Familial Hypertrophic, 16
Ventricular tachycardia, Asymmetric septal hypertrophy, Atrial fibrillation, Left bundle branch b... OMIM:613838
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Tremor, Optic atrophy, Spastic tetraparesis, Stereotypy OMIM:619470
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Eyelid myoclonus OMIM:616421
Molybdenum Cofactor Deficiency, Complementation Group A
Axonal loss, Opisthotonus, Myoclonic spasms, Peripheral demyelination, Gliosis, Spastic tetrapleg... OMIM:252150
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Decreased nerve conduction velocity, Hypsarrhythmia, EEG abnorm...