Gene Summary

Name:
SRY (sex determining region Y)-box 10
Synonyms:
Sox21,  gt

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.

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
Adrenal gland  Wholemount images heterozygote 100% (2 of 2)
Brain  Wholemount images heterozygote 100% (2 of 2)
Brainstem  Wholemount images heterozygote 100% (2 of 2)
Cerebellum  Wholemount images heterozygote 100% (2 of 2)
Cerebral cortex  Wholemount images heterozygote 100% (2 of 2)
Hippocampus  Wholemount images heterozygote 100% (2 of 2)
Hypothalamus  Wholemount images heterozygote 100% (2 of 2)
Olfactory lobe  Wholemount images heterozygote 100% (2 of 2)
Peripheral nervous system  Wholemount images heterozygote 100% (2 of 2)
Prostate gland  Wholemount images heterozygote Not available
Skin  Wholemount images heterozygote 100% (2 of 2)
Spinal cord  Wholemount images heterozygote 100% (2 of 2)
Striatum  Wholemount images heterozygote 100% (2 of 2)
Testis  Wholemount images heterozygote 50% (1 of 2)
Thyroid gland  Wholemount images heterozygote 100% (2 of 2)
Trigeminal V nerve  Wholemount images heterozygote 100% (2 of 2)
Vas deferens  Wholemount images heterozygote Not available
Aorta N/A heterozygote 0.0% (0 of 2)
Bone 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)
Cecum N/A heterozygote 0.0% (0 of 1)
Esophagus N/A heterozygote 0.0% (0 of 2)
Eye N/A heterozygote Not available
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Kidney 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 0.0% (0 of 2)
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)
Mesenteric lymph node N/A heterozygote 0.0% (0 of 2)
Oral epithelium N/A heterozygote 0.0% (0 of 2)
Ovary 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)
Parathyroid gland 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)
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)
Thymus 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)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

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

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cecum 5.73% (22 of 384)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
esophagus 1.66% (7 of 422)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
mesenteric lymph node 0.31% (1 of 323)
olfactory lobe 0.33% (2 of 598)
oral epithelium 0.0%
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyers patch 0.0%
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.33% (2 of 598)
vas deferens 4.56% (18 of 395)
vascular system 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

11 Images

Human diseases caused by Sox10 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 Sox10 by orthology or direct annotation.

The table below shows human diseases predicted to be associated to Sox10 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Hypopigmented s... OMIM:613265
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, Aganglionic megacolon, White forelock, Hete... OMIM:172800
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Aganglionic megacolon, Hypopigmented sk... ORPHA:2885
Dyschromatosis Universalis Hereditaria
Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... ORPHA:241
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Waardenburg Syndrome Type 2
Premature graying of hair, Aganglionic megacolon, Hypopigmented skin patches, White forelock, Hyp... ORPHA:895
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Hypopigmented s... OMIM:277580
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Alopecia of scalp, ... OMIM:617294
Book Syndrome
Premature graying of hair OMIM:112300
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest, Ataxia OMIM:172850
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of the skin, Cerebral cortical atrophy, Subcortical cerebral atrophy, Seizure, P... ORPHA:33445
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches ORPHA:2435
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Enterocolitis, Abnormality of enteric ganglion morphology OMIM:142623
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Chorea, Spasticity, Cerebral cortical atrophy, Abnormal pyramidal sign, Seizure, Parkinsonism, Ri... OMIM:617672
Congenital Disorder Of Glycosylation, Type I/Iix
Infantile spasms, Epileptic spasm, Abnormality of skin pigmentation, Seizure OMIM:212067
Abcd Syndrome
Total intestinal aganglionosis, Albinism, White eyelashes, Aganglionic megacolon, White eyebrow, ... OMIM:600501
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:607734
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... OMIM:145250
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, White eyelashes, Synophrys, White eyebrow... ORPHA:897
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Griscelli Syndrome, Type 2
Hypopigmentation of the skin, Spasticity, Seizure, Accumulation of melanosomes in melanocytes, Si... OMIM:607624
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus OMIM:304100
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides OMIM:103500
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Absent eyelashes, Demyelinating sensory neuropathy, Spastic paraplegia, Abs... OMIM:182815
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Roussy-Levy Hereditary Areflexic Dystasia
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypert... OMIM:180800
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Abnormal pyramidal sign, Progressive spasticity, Leukodystrophy, Ataxia, Hirsutism, Head titubati... ORPHA:527497
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Peroxisome Biogenesis Disorder 8B
Cerebellar vermis atrophy, Optic atrophy, Babinski sign, Frequent falls, Hypertonia, Dysphagia, G... OMIM:614877
Elejalde Neuroectodermal Melanolysosomal Syndrome
Hypopigmentation of the skin, Spasticity, Seizure, Accumulation of melanosomes in melanocytes, At... OMIM:256710
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Intesti... OMIM:243180
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:606482
Leukodystrophy, Hypomyelinating, 11
Spasticity, Leukodystrophy, Myoclonus, Ataxia, Tremor, CNS hypomyelination, Cerebellar atrophy OMIM:616494
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Spasticity, Abnormal pyramidal sign, Truncal ataxia, Leukodystrophy, Limb dystonia, Torticollis, ... OMIM:617560
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells ORPHA:65684
Leukoencephalopathy, Brain Calcifications, And Cysts
Spasticity, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, Leuko... OMIM:614561
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Axin2-Related Attenuated Familial Adenomatous Polyposis
Colorectal polyposis, Neoplasm of the rectum, Colon cancer, Sparse hair, Adenomatous colonic poly... ORPHA:401911
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Gait ataxia, Seizure, CNS demyelination, Babinski sign, Spastic tetraparesis, Decreased nerve con... OMIM:249900
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Progressive gait ataxia, Symmetrical progressive peripheral demyelination, Demyelinating motor ne... ORPHA:208981
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Alopecia, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigment... ORPHA:79397
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Intention tremor, Premature graying of hair OMIM:190200
Waardenburg Syndrome, Type 3
Premature graying of hair, Synophrys, Aganglionic megacolon, Hypopigmented skin patches, White fo... OMIM:148820
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Developmental And Epileptic Encephalopathy 14
Spasticity, Cerebral cortical atrophy, Tetraplegia, Neuronal loss in central nervous system, Dela... OMIM:614959
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, White eyelashes, Synophrys, White eyebrow, Numerous pigmente... OMIM:193510
Hereditary Methemoglobinemia
Global brain atrophy, Spasticity, Delayed myelination, Spastic tetraplegia, Limb dystonia, Cerebr... ORPHA:621
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig... OMIM:131960
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Autosomal Spastic Paraplegia Type 58
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Abnormal pyramidal sign, Spastic ataxia, Peri... ORPHA:397946
Optic Atrophy 2
Optic atrophy, Tremor, Dysdiadochokinesis, Babinski sign OMIM:311050
Krabbe Disease
Vomiting, Peripheral demyelination, Seizure, Optic atrophy, Progressive spasticity, CNS demyelina... OMIM:245200
Waardenburg Syndrome Type 1
Premature graying of hair, White eyelashes, Synophrys, White eyebrow, Aganglionic megacolon, Hypo... ORPHA:894
Charcot-Marie-Tooth Disease, Type 4A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:214400
Pelizaeus-Merzbacher Disease
Global brain atrophy, Cerebellar vermis atrophy, Sudanophilic leukodystrophy, Abnormal pyramidal ... OMIM:312080
Waardenburg Syndrome, Type 4C
Premature graying of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Hypopigmented s... OMIM:613266
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Global brain atrophy, Spasticity, Parkinsonism, Rigidity, Apraxia, CNS demyelination, Neuronal lo... OMIM:221820
Subacute Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Diffuse peripheral demyelination, Axonal loss, Decreased motor nerve cond... ORPHA:206594
Pyknoachondrogenesis
Stillbirth OMIM:265880
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Spasticity, Cerebral cortical atrophy, Postural tremor, Leukodystrophy, Ataxia, Babinski sign, Dy... OMIM:607694
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Gait ataxia, Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction v... OMIM:601098
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... OMIM:203100
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Fair hair, Incoordination, Seizure, Gait ataxia OMIM:618808
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Null Syndrome
Progressive spastic paraplegia, Abnormality of peripheral nerve conduction, Optic atrophy, Demyel... ORPHA:280234
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Gait ataxia, Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decrea... OMIM:614895
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Hypopigmentation of the skin, Absent toenail, Abnormal fingernail morphology,... ORPHA:89838
Spinocerebellar Ataxia 17
Gait ataxia, Chorea, Parkinsonism, Rigidity, Apraxia, Myoclonus, Limb ataxia, Diffuse cerebral at... OMIM:607136
Leukodystrophy, Hypomyelinating, 15
Spasticity, Abnormal pyramidal sign, Dysphagia, Leukodystrophy, Ataxia, Cerebral atrophy, CNS hyp... OMIM:617951
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... ORPHA:69125
Amyotrophic Lateral Sclerosis 4, Juvenile
Degeneration of anterior horn cells, Abnormal lower motor neuron morphology, Pallor of dorsal col... OMIM:602433
Waardenburg Syndrome
Abnormality of skin pigmentation, Abnormal eyebrow morphology, Premature graying of hair, Abnorma... ORPHA:3440
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes OMIM:300650
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Dystonia, Peripheral demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Hand tremor, Babinski sign, Decreased compound muscle action potential ampl... OMIM:618279
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Developmental And Epileptic Encephalopathy 5
Gastroesophageal reflux, Cerebral cortical atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hy... OMIM:613477
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Spasticity, Onion bulb formation, Optic a... OMIM:609260
Huntington Disease
Gait ataxia, Chorea, Rigidity, Neuronal loss in central nervous system, Gliosis, Cerebellar atrop... OMIM:143100
Spinocerebellar Ataxia 38
Gait ataxia, Cerebellar vermis atrophy, Myoclonus, Limb ataxia, Ataxia, Tremor, Peripheral axonal... OMIM:615957
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Abnormal pyramidal sign, Dysdiadochokinesis, ... OMIM:614381
Episodic Ataxia, Type 1
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor OMIM:160120
Adult-onset autosomal dominant leukodystrophy (ADLD)
Leukodystrophy, Abnormal pyramidal sign, Peripheral demyelination DECIPHER:59
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Rigidity, Leukodystrophy, Cerebral hypomyelination, Choreoathetosis, Atax... OMIM:608804
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Aganglionic megacolon, Intestinal obstructi... ORPHA:388
Griscelli Syndrome Type 1
Seizure, Premature graying of hair, Iris hypopigmentation, Ataxia, White hair, Hypertonia, Partia... ORPHA:79476
Leukodystrophy, Hypomyelinating, 6
Spasticity, Rigidity, Leukodystrophy, Cerebral hypomyelination, Choreoathetosis, Oculomotor aprax... OMIM:612438
Adducted Thumbs Syndrome
Myelin-dependent gliosis, High palate, Velopharyngeal insufficiency, Cerebral dysmyelination, Dys... OMIM:201550
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebral cortical atrophy, Abnormal pyramidal sign, Brain atrophy, Cerebral hypomyelination, CNS ... ORPHA:369939
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Tremor-Ataxia-Central Hypomyelination Syndrome
Spasticity, Cerebral cortical atrophy, Postural tremor, Spastic dysarthria, Leukodystrophy, Clums... ORPHA:447896
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Generalized myoclonic seizure, Ataxia, Cerebral atrophy, Cerebellar atrophy, Neuro... OMIM:610951
Epilepsy, Progressive Myoclonic, 1B
Myoclonus, Generalized myoclonic seizure, Ataxia, Babinski sign, Dysmetria, Atonic seizure, Tremo... OMIM:612437
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Gait ataxia, Cerebral cortical atrophy, Seizure, Focal-onset seizure, Abnormality of extrapyramid... OMIM:615362
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpigmentation,... ORPHA:79399
Spinocerebellar Ataxia Type 43
Gait ataxia, Cerebellar vermis atrophy, Limb ataxia, Peripheral axonal neuropathy, Cogwheel rigid... ORPHA:497764
Spinocerebellar Ataxia, Autosomal Recessive 4
Gait ataxia, Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Torticollis, Ataxia, Babins... OMIM:607317
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:145900
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Degeneration of anterior horn cells, Hand... OMIM:604484
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Gait ataxia, Impaired oropharyngeal swallow response, Onion bulb formation, Acute demyelinating p... ORPHA:98916
Deafness, Dystonia, And Cerebral Hypomyelination
Abnormal pyramidal sign, Cerebral hypomyelination, Cerebral atrophy, Tetraplegia, Cerebellar atro... OMIM:300475
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Gliosis, Cheyne-Stokes respiration OMIM:618328
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Spasticity, Frontal upsweep of hair, Synophrys, Long eyelashes, Dystonia, CNS hypomyelination, Ce... OMIM:619286
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Paraplegia, Peripheral demyelination, Nausea ORPHA:71211
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118200
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Aspiration pneumonia, Abnormal peripheral action potential amplitude, Tremor, Abnormality of the ... ORPHA:90117
Developmental And Epileptic Encephalopathy 54
Delayed myelination, Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Ton... OMIM:617391
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Seizure, Axonal loss, Apraxia, Myoclonus, Babinski sign, Cerebral atrophy, Caudate at... OMIM:221770
Spastic Ataxia 5, Autosomal Recessive
Spasticity, Onion bulb formation, Spastic ataxia, Dysdiadochokinesis, Oculomotor apraxia, General... OMIM:614487
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Axonal degeneration/regeneration, Segmental peripheral demyelination, Segme... OMIM:606483
Charcot-Marie-Tooth Disease, Type 4C
Segmental peripheral demyelination, Peripheral axonal degeneration, Decreased motor nerve conduct... OMIM:601596
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Amyotrophic lateral sclerosis, Gliosis, Dysphagia, Athetosis, Dystonia OMIM:300857
Congenital Central Hypoventilation Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system ORPHA:661
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Spinocerebellar Ataxia Type 15/16
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... ORPHA:98769
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia OMIM:613227
Kaya-Barakat-Masson Syndrome
Spasticity, Spastic tetraplegia, Limb dystonia, Cerebral atrophy, CNS hypomyelination, Cerebellar... OMIM:619125
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Chorea, Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Ataxia, Babins... OMIM:604168
Dystonia 31
Abnormal posturing, Writer's cramp, Leg dystonia, Craniofacial dystonia, Arm dystonia, Generalize... OMIM:619565
Epilepsy, Progressive Myoclonic 7
Myoclonic seizure, Myoclonus, Ataxia, Bilateral tonic-clonic seizure, Tremor, Cerebellar atrophy OMIM:616187
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:118210
Juvenile Amyotrophic Lateral Sclerosis
Chorea, Retrocollis, Opisthotonus, Spastic diplegia, Parkinsonism, Upper limb spasticity, Ataxia,... ORPHA:300605
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
4H Leukodystrophy
Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Cerebr... ORPHA:289494
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Spasticity, Ataxia, Babinski sign, Tremor, Peripheral axonal neuropathy OMIM:611105
Giant Axonal Neuropathy
Spasticity, Babinski sign, Woolly hair, Pili canaliculi, CNS hypomyelination ORPHA:643
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Dystrophic toenail, Decreased motor nerve... OMIM:600882
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Abnormal lower motor neuron morphology, Amyotrophic late... OMIM:105550
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Hypertrophic nerve ... OMIM:118220
Spinocerebellar Ataxia 43
Gait ataxia, Cerebellar vermis atrophy, Rigidity, Limb ataxia, Ataxia, Tremor OMIM:617018
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Intellectual Developmental Disorder, X-Linked 104
Spasticity, Cerebral cortical atrophy, Seizure, Optic atrophy, Frontal upsweep of hair, Ataxia, T... OMIM:300983
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:607706
Spinocerebellar Ataxia Type 25
Gait ataxia, Vomiting, Spastic dysarthria, Babinski sign, Diffuse cerebellar atrophy, Progressive... ORPHA:101111
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral axonal d... OMIM:302800
Spinocerebellar Ataxia, Autosomal Recessive 2
Gait ataxia, Spasticity, Cerebellar vermis atrophy, Limb ataxia, Incoordination, Ataxia, Dysmetri... OMIM:213200
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Epilepsia partialis continua, Cerebral cortical atrophy, Cerebellar cortical atrophy, Dysphagia, ... OMIM:271245
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
White eyelashes, White forelock, Ileus, Spasticity, Spastic tetraplegia, Cerebral dysmyelination,... OMIM:609136
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Peripheral demyelination, Ataxia, Axonal loss OMIM:616684
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Bullous Dystrophy, Hereditary Macular Type
Hyperpigmentation of the skin, Acrocyanosis, Death in childhood OMIM:302000
Chronic Inflammatory Demyelinating Polyneuropathy
Abnormal nerve conduction velocity, Motor conduction block, Decreased nerve conduction velocity, ... ORPHA:2932
Developmental And Epileptic Encephalopathy 79
Spasticity, Cerebral cortical atrophy, Frontotemporal cerebral atrophy, CNS hypomyelination OMIM:618559
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Pelizaeus-Merzbacher Disease, Transitional Form
Spastic tetraparesis, CNS hypomyelination ORPHA:280224
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination, Abnormal pyramidal sign ORPHA:85163
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Central apnea, Respiratory failure, Death in infancy OMIM:611722
Spinocerebellar Ataxia 37
Ataxia, Tremor, Frequent falls, Dysphagia, Cerebellar atrophy OMIM:615945
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spasticity, Spastic gait, Demyelinating peripheral neuropathy, Ataxia, Babinski sign, Delayed CNS... OMIM:619742
Sandhoff Disease, Adult Form
Gait ataxia, Spasticity, Focal dystonia, Tremor, Sensory axonal neuropathy, Dysphagia, Dystonia, ... ORPHA:309169
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... OMIM:301830
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Decreased number of large peripheral myelinated nerve fibers, Peripheral de... OMIM:608340
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Abnormal pyramidal sign, Leukodystrophy, Babinski sign, Truncal titubation,... OMIM:610532
Diaminopentanuria
Spasticity, Neurodegeneration, Seizure, Ataxia OMIM:222350
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Axonal loss, Decreased motor nerve conduction velocity, Peripheral hypomyel... OMIM:611228
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Axonal loss, Peripheral axonal degeneration, Decreased number of small... ORPHA:101097
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, CNS hypomyelination ORPHA:88637
Lissencephaly Due To Tuba1A Mutation
Perisylvian polymicrogyria, Aganglionic megacolon, Agyria, Lissencephaly, Optic nerve hypoplasia,... ORPHA:171680
Leukodystrophy, Hypomyelinating, 10
Spasticity, Cerebral cortical atrophy, Leukodystrophy, Prominent eyelashes, Babinski sign, CNS hy... OMIM:616420
Spinocerebellar Ataxia, Autosomal Recessive 27
Gait ataxia, Spasticity, Cerebral cortical atrophy, Spastic ataxia, Torticollis, Frequent falls, ... OMIM:618369
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Abnormal pyramidal sign, Seizure, Myoclonus, Ataxia, Neuronal loss in central nervous... OMIM:615924
Developmental And Epileptic Encephalopathy 78
Chorea, Cerebral palsy, Spasticity, CNS hypomyelination OMIM:618557
Myoclonic-Atonic Epilepsy
Myoclonic seizure, Eyelid myoclonus, Generalized myoclonic-atonic seizure, Ataxia, Atonic seizure... OMIM:616421
Apnea, Central Sleep
Cyanosis, Sleep apnea, Abnormal pattern of respiration, Irregular respiration OMIM:207720
Migraine, Familial Hemiplegic, 1
Seizure, Hemiparesis, Ataxia, Hemiplegia, Tremor, Cerebellar atrophy OMIM:141500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Facial palsy OMIM:159950
Spasticity, Childhood-Onset, With Hyperglycinemia
Spasticity, Abnormal pyramidal sign, Spastic ataxia, Spastic diplegia, Leukodystrophy, Babinski sign OMIM:616859
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Clumsiness, Slurred speech, Tetraparesis,... ORPHA:2386
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Deafness, Autosomal Dominant 9
Cochlear degeneration, Postlingual sensorineural hearing impairment, Tinnitus, Vertigo OMIM:601369
Folinic Acid-Responsive Seizures
Chorea, Delayed myelination, Frontotemporal cerebral atrophy, Cerebral hypomyelination, Ataxia, S... ORPHA:79097
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Optic atrophy, Babinski sign, Spastic paraplegia, Knee clonus, Peripheral a... OMIM:615035
Aland Island Eye Disease
Albinism OMIM:300600
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Brain atrophy, Abnormal motor neuron morphology, Amyotrophic lateral sclerosis, Cranial nerve com... ORPHA:52430
Sporadic Creutzfeldt-Jakob Disease
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myoclonus, Upp... ORPHA:204
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Fasciculations, Parkinsonism, Apraxia, Abnormality of extrapyramidal motor ... ORPHA:275872
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Pseudobulbar paralysis, Cerebral hypomyelination, Diffuse cerebral atrophy, Ataxia, Dysmetria, Pr... ORPHA:438114
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Apnea, Respiratory failure, Death in infancy OMIM:613869
Autosomal Recessive Spastic Paraplegia Type 35
Corpus callosum atrophy, Cerebral cortical atrophy, Ankle clonus, Seizure, Dysdiadochokinesis, Op... ORPHA:171629
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Ankle clonus, Seizure, Dysdiadochokinesis, Optic atrophy, Ataxia, Spastic paraplegia, Babinski si... OMIM:612319
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation, Peripheral demyelination OMIM:615185
Secondary Short Bowel Syndrome
Enterocolitis, Villous atrophy, Small intestinal dysmotility, Malabsorption, Aganglionic megacolo... ORPHA:95427
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Seizure, Optic atrophy, Focal-onset seizure, Generalized myoclonic seizure, Oculogyric crisis, St... ORPHA:330050
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... OMIM:608673
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
X-Linked Lissencephaly With Abnormal Genitalia
Malabsorption, Aganglionic megacolon, Pachygyria, Death in infancy ORPHA:452
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Atax... OMIM:236792
Primary Dystonia, Dyt27 Type
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... ORPHA:464440
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus, Neuronal loss in central nervous system,... OMIM:604218
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Onion bulb formatio... OMIM:605253
Spinocerebellar Ataxia 23
Gait ataxia, CNS demyelination, Limb ataxia, Babinski sign, Neuronal loss in central nervous syst... OMIM:610245
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Axonal regeneration, Paralysis, Peripheral hypomyelina... OMIM:605285
Bresek Syndrome
Aganglionic megacolon, Neonatal death, Cleft palate, Optic nerve hypoplasia ORPHA:85284
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Hypopigmented skin patches, Onychogryposis of fingernail, Hyperpi... ORPHA:2251
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Dyskinesia, Limb And Orofacial, Infantile-Onset
Chorea, Hemiballismus, Seizure, Tremor, Frequent falls, Hyperkinetic movements OMIM:616921
Developmental And Epileptic Encephalopathy 4
Spastic tetraplegia, Cerebral hypomyelination, Choreoathetosis, Spastic paraplegia, Delayed CNS m... OMIM:612164
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Abnormal autonomic nervous system physiology, Aganglionic megacolon OMIM:613870
Leukoencephalopathy With Vanishing White Matter 1
Spasticity, Cerebral hypomyelination, CNS demyelination, Gliosis OMIM:603896
Leigh Syndrome
Spasticity, CNS demyelination, Ataxia, Hypertrichosis, Gliosis, Dystonia, Pigmentary retinopathy OMIM:256000
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Seizure, Parkinsonism, Rigidity, Apraxia, Babinski sign, Bilateral tonic-clonic seizu... OMIM:300423
Pontocerebellar Hypoplasia, Type 4
Spasticity, Myoclonus, Gliosis, Hypertonia, Dysphagia OMIM:225753
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Ataxia, CNS hypomyelination, Spastic paraplegia OMIM:619688
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Cerebral atrophy, Spastic tetraparesis, CNS hypomyelination OMIM:618012
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Chorea, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Tremor, Hyperkinetic movements, Dyst... OMIM:618425
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Spasticity, Delayed myelination, Exaggerated startle response, CNS hypomyelination, Cerebellar at... OMIM:618367
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Absent eyelashes, Spotty hypopigmentation, Spotty hyperpigmentation, Dist... ORPHA:79133
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia ORPHA:217012
Hypertrichosis Lanuginosa Congenita
Thick eyebrow, Abnormality of skin pigmentation, Generalized hirsutism ORPHA:2222
Classic Phenylketonuria
Hypopigmentation of the skin, Seizure, Hemiplegia, Hypopigmentation of hair, Paraplegia, Tremor, ... ORPHA:79254
Combined Oxidative Phosphorylation Deficiency 24
Spasticity, Neuronal loss in central nervous system, Gliosis, CNS hypomyelination, Cerebellar atr... OMIM:616239
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Spastic diplegia, Ataxia, Babinski sign, Lower limb spasticity, CNS hypomyelination OMIM:615281
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Dystonia 27
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... OMIM:616411
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Tremor, Heterochromia iridis, Premature graying of hair ORPHA:66633
Deafness, X-Linked 2
Stapes ankylosis, Conductive hearing impairment, Dilatated internal auditory canal, Progressive s... OMIM:304400
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy OMIM:105500
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Myoclonic seizure, Gait ataxia, Seizure, Generalized myoclonic seizure, Ataxia, Bilateral tonic-c... OMIM:617831
Neuropathy, Congenital Hypomyelinating, 3
Gastroesophageal reflux, Spasticity, High palate, Babinski sign, CNS hypomyelination, Cerebellar ... OMIM:618186
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Waardenburg Syndrome, Type 2E
Cafe-au-lait spot, Premature graying of hair, Ocular albinism, White eyelashes, Iris hypopigmenta... OMIM:611584
Developmental And Epileptic Encephalopathy 86
Dystonia, CNS hypomyelination OMIM:618910
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Brain atrophy, Synophrys, Ataxia, Delayed CNS myelination, Tetraparesis, Cerebral atrophy, CNS hy... OMIM:619260
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Combined Saposin Deficiency
Myoclonus, CNS demyelination, Babinski sign, Neuronal loss in central nervous system, Hyperkineti... OMIM:611721
Microcephaly 10, Primary, Autosomal Recessive
Spasticity, Delayed CNS myelination, Gliosis, Cerebral atrophy, Hypertonia, Cerebellar atrophy OMIM:615095
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Spasticity, Babinski sign, Delayed CNS myelination, Cerebral atrophy, Cerebellar atrophy, Pigment... OMIM:619090
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Gait ataxia, Chorea, Absence seizure with eyelid myoclonia, Truncal ataxia, Myoclonus, Generalize... OMIM:618587
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Premature graying of hair, Hypopigmented skin pat... ORPHA:3437
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Epilepsy, Familial Adult Myoclonic, 5
Focal sensory seizure with visual features, Myoclonus, Bilateral tonic-clonic seizure, Tremor, Fo... OMIM:615400
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Peripheral demyelination, Dysphagia OMIM:607736
Multiple Mitochondrial Dysfunctions Syndrome 5
Leukodystrophy, Spasticity, Delayed myelination, Pigmentary retinopathy OMIM:617613
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Sparse eyebrow, Synophrys, Cataplexy, Upper limb spasticity, Tongue fasciculations, Diffuse cereb... OMIM:617193
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Respiratory insufficiency, Reduced maximal inspiratory pressure, Abnormal respiratory system phys... ORPHA:266
Spinocerebellar Ataxia Type 20
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... ORPHA:101110
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
High palate, Rigidity, Choreoathetosis, CNS hypomyelination, Hypertonia OMIM:620023
Pontocerebellar Hypoplasia Type 1
Cerebral cortical atrophy, Optic atrophy, Degeneration of anterior horn cells ORPHA:2254
Segawa Syndrome, Autosomal Recessive
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... OMIM:605407
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Substantia nigra gliosis, Tremor, Cerebral atrophy, Dystonia, Bradykinesia OMIM:600116
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Dystonia 3, Torsion, X-Linked
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... OMIM:314250
Epilepsy, Familial Adult Myoclonic, 4
Bilateral tonic-clonic seizure, Myoclonus, Tremor, Seizure OMIM:615127
Infantile Neuronal Ceroid Lipofuscinosis
Poor fine motor coordination, Chorea, Generalized-onset seizure, Cerebral cortical atrophy, Spast... ORPHA:79263
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:609311
Metachromatic Leukodystrophy
Chorea, Seizure, Spastic tetraplegia, Optic atrophy, Ataxia, Babinski sign, Decreased nerve condu... OMIM:250100
Charcot-Marie-Tooth Disease Type 4G
Motor conduction block, Decreased motor nerve conduction velocity, Demyelinating peripheral neuro... ORPHA:99953
Spinocerebellar Ataxia 18
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor, Sensory axonal neu... OMIM:607458
Primary Dystonia, Dyt13 Type
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... ORPHA:98807
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Poor fine motor coordination, Gene... ORPHA:36387
Ddost-Cdg
Gastroesophageal reflux, Tremor, Oromotor apraxia, CNS hypomyelination ORPHA:300536
Nemaline Myopathy 8
Facial palsy, Respiratory failure, Death in infancy OMIM:615348
Spinocerebellar Ataxia 40
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Spastic paraparesis, Dysmetria, Tremor, Po... OMIM:616053
Pelizaeus-Merzbacher Disease, Classic Form
Spasticity, Abnormal pyramidal sign, Titubation, Cerebral hypomyelination, Abnormality of extrapy... ORPHA:280219
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Motor neuron atrophy, Frontotemporal cerebral atrophy, Diffuse cerebral atrophy, Abnormal neuron ... ORPHA:412066
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Decreased motor ner... OMIM:605588
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Tremor, Optic atrophy, Optic disc pallor OMIM:165300
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Spasticity, Pseudobulbar paralysis, Leukodystrophy, Ataxia, Babinski sign, Symmetric peripheral d... OMIM:169500
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Abnormal lower motor... OMIM:606070
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Chorea, Hemiballismus, Brain atrophy, Tremor, Frequent falls ORPHA:494526
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, Cerebellar vermis atrophy, High palate, CNS hypomyelination OMIM:615760
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Amyotrophic lateral sclerosis, Caudate atrophy OMIM:617892
Leukodystrophy, Hypomyelinating, 22
Upper limb hypertonia, Lower limb hypertonia, CNS hypomyelination, Babinski sign OMIM:619328
Developmental And Epileptic Encephalopathy 29
Chorea, Spasticity, Blepharospasm, Limb dystonia, Cerebral atrophy, CNS hypomyelination OMIM:616339
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Gastroesophageal reflux, Spasticity, Delayed CNS myelination, CNS hypomyelination, Hypertonia OMIM:616577
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Seizure, Iris hypopigmentation, Ataxia, Hypopigmentation of hair ORPHA:411515
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... OMIM:604563
Neurodegeneration With Brain Iron Accumulation 7
Leukodystrophy, Ataxia, Dysmetria, Tremor, Cerebral atrophy, Dysphagia, Cerebellar atrophy, Lower... OMIM:617916
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Limb hypertonia, Myoclonic spasms, Rigidity, Babinski sign, Neuronal loss in central nervous syst... OMIM:614498
Spastic Paraplegia 6, Autosomal Dominant
Seizure, Spastic gait, Babinski sign, Spastic paraplegia, Tremor, Lower limb spasticity, Clonus, ... OMIM:600363
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Hypopigmented skin patches ORPHA:3239
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:616437
Adult Neuronal Ceroid Lipofuscinosis
Spasticity, Abnormal pyramidal sign, Seizure, Clumsiness, Myoclonus, Abnormality of extrapyramida... ORPHA:79262
Huntington Disease-Like 1
Poor fine motor coordination, Gait ataxia, Chorea, Cerebral cortical atrophy, Clumsiness, Incoord... ORPHA:157941
Perching Syndrome
Cyanosis, Respiratory distress OMIM:617055
Rhombencephalosynapsis
Esophageal atresia, Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, Anal atresia, Tr... ORPHA:59315
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Ankle clonus, Cerebral cortical atrophy, ... OMIM:604360
Congenital Myopathy 14
Apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy OMIM:618414
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Myoclonus, Delayed CNS myelination, High palate, CNS hypomyelination OMIM:616158
Spinocerebellar Ataxia 7
Chorea, Spasticity, Optic atrophy, Abnormality of extrapyramidal motor function, Babinski sign, D... OMIM:164500
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Respiratory distress, Cough, Respiratory failure, Tachypnea OMIM:263000
Laryngotracheal Angioma
Cyanosis, Intercostal retractions, Respiratory distress, Apnea, Cough, Stridor, Wheezing ORPHA:137935
Posterior Column Ataxia With Retinitis Pigmentosa
Achalasia, Peripheral demyelination, Optic atrophy, Bone spicule pigmentation of the retina, Atax... OMIM:609033
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Adenylosuccinase Deficiency
Gait ataxia, Spasticity, Cerebral hypomyelination, Myoclonus, Hemiplegia, Cerebral atrophy, CNS h... OMIM:103050
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Spasticity, Narrow palate, Jejunal atresia, High, narrow palate, Cerebral hypomyelination, Myoclo... OMIM:612949
Haddad Syndrome
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia ORPHA:423296
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Peripheral demyelination ORPHA:99944
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy, Dystonia OMIM:616763
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Respiratory failure, Neonatal death, Dystonia, Respiratory insufficiency due to ... OMIM:611890
Developmental And Epileptic Encephalopathy 75
Spasticity, Cerebral cortical atrophy, Babinski sign, CNS hypomyelination, Frontal cortical atrophy OMIM:618437
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy, Spasticity OMIM:616370
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Leukodystrophy, Ataxia, Inflammation of the large intestine, Dysmetria, Dystonia, Absent uvula, H... OMIM:619708
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Pachygyria, Cleft palate ORPHA:66629
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia ORPHA:401901
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Leukodystrophy, Abnormal pyramidal sign, Dystonia, Ataxia OMIM:619196
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Typical absence seizure, Seizure, Eyelid myoclonus, Clumsiness, Myoclonus, Genera... ORPHA:2590
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Lumbar hypertrichosis, Bifid uvula, CNS hypomyelination, Hypertonia, Highly arched eyebrow, Low a... OMIM:618622
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Immunodeficiency 95
Respiratory failure, Respiratory distress, Recurrent viral pneumonia OMIM:619773
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Generalized hirsutism, Generalized hypo... ORPHA:1816
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Seizure, Decreased motor nerve conduction velocity, Demyelinating periphera... OMIM:218000
Atypical Pantothenate Kinase-Associated Neurodegeneration
Chorea, Spasticity, Abnormal pyramidal sign, Optic atrophy, Parkinsonism, Rigidity, Limb dystonia... ORPHA:216873
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Congenital Myopathy 10A, Severe Variant
Respiratory insufficiency, Respiratory distress, Restrictive ventilatory defect, Abnormal motor n... OMIM:614399
Adult Krabbe Disease
Hoffmann sign, Progressive spastic paraparesis, Spasticity, Clumsiness, CNS demyelination, Upper ... ORPHA:206448
Machado-Joseph Disease
Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Abnormality of extrapyramidal motor function,... OMIM:109150
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Cerebral cortical atrophy, Peripheral axonal degeneration, Babinski sign, Dysphagia, Bradykinesia... OMIM:615157
Progressive Myoclonic Epilepsy With Dystonia
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Di... ORPHA:352596
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Glycosylphosphatidylinositol Biosynthesis Defect 15
Myoclonic seizure, Gait ataxia, Spasticity, Optic atrophy, Apraxia, Bilateral tonic-clonic seizur... OMIM:617810
Congenital Ptosis
Long eyelashes, Cafe-au-lait spot, Piebaldism ORPHA:91411
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Cerebrooculofacioskeletal Syndrome 1
Delayed myelination, Brain atrophy, CNS demyelination, Diffuse cerebral atrophy, Hirsutism, Glios... OMIM:214150
Congenital Neuronal Ceroid Lipofuscinosis
Spasticity, Diffuse demyelination of the cerebral white matter, Gliosis, Cerebellar atrophy, Abno... ORPHA:168486
Rapid-Onset Dystonia-Parkinsonism
Gait ataxia, Seizure, Resting tremor, Parkinsonism, Limb dystonia, Torticollis, Craniofacial dyst... ORPHA:71517
Spinocerebellar Ataxia Type 37
Cerebellar vermis atrophy, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Diffuse cerebellar atro... ORPHA:363710
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis ORPHA:2901
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar vermis atrophy, Ankle clonus, Seizure, Abnormal pyramidal sign, Dysphagia,... OMIM:617435
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Spasticity, High palate, Limb hypertonia, Broad eyebrow, Ataxia, CNS hypomy... ORPHA:481152
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Motor axonal neuropathy, Axonal loss, Dec... ORPHA:98856
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Hypoxemia, Respiratory distress, Crackles, Restrictive ventilatory defect... ORPHA:1302
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Premature graying of hair, Microcolon, Aganglionic megacolon, Hypopi... ORPHA:163746
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral axonal neuropathy OMIM:610100
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Seizure, Spastic gait, Spastic dysarthria, Limb ataxia, Babinski sign, Spastic pa... ORPHA:251282
Spastic Ataxia 2, Autosomal Recessive
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... OMIM:611302
Hermansky-Pudlak Syndrome 1
Hypopigmentation of the skin, Melanocytic nevus, Ocular albinism, Albinism, Freckles in sun-expos... OMIM:203300
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Spinocerebellar Ataxia Type 12
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... ORPHA:98762
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon ORPHA:261222
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Tremor, Cerebral atrophy, Or... ORPHA:521406
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Epilepsy, Familial Adult Myoclonic, 1
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor OMIM:601068
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis