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Gene: Sox10 MGI:98358

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Gene Summary

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

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IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

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 0.0%
aorta 0.0%
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cecum 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
esophagus 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
mesenteric lymph node
olfactory lobe 0.0%
oral epithelium 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyers patch 0.0%
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle 0.0%
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
trigeminal v nerve 0.0%
urinary bladder
uterus 0.0%
vas deferens Unavailable
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

View 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.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... ORPHA:897
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:613266
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, White eyelashes, White eyebrow, Ataxia, Cerebral dysmyelination, Dysmyelinating leuk... OMIM:609136
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ileus, Hypopigmente... ORPHA:163746
Kallmann Syndrome
Ataxia, Tremor, Paraplegia, Seizure, Breast hypoplasia ORPHA:478

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
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism 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
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... 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
Griscelli Syndrome, Type 3
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling ORPHA:2678
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... 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
Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon OMIM:613711
Griscelli Syndrome, Type 1
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh... OMIM:172800
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
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, Partial albinism, Iris hypopigmentation ORPHA:79478
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo... ORPHA:2885
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... 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
Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of... ORPHA:895
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... 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
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... 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
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Optic atrophy,... ORPHA:33445
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Ce... OMIM:617672
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation, Seizure, Epileptic spasm, Infantile spasms OMIM:212067
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Abcd Syndrome
White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin... OMIM:600501
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag... ORPHA:897
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Enterocolitis OMIM:142623
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Seizure, Melanin pigment aggregatio... 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
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Spastic Paraplegia With Neuropathy And Poikiloderma
Absent eyebrow, Demyelinating sensory neuropathy, Absent eyelashes, Demyelinating motor neuropath... OMIM:182815
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Abnormal pyramidal sign, Cerebral atrophy,... ORPHA:527497
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Axin2-Related Attenuated Familial Adenomatous Polyposis
Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse... ORPHA:401911
Peroxisome Biogenesis Disorder 8B
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Ataxia, Limb tremor, Constipation, Br... OMIM:614877
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Seizure, Melanin pigment ag... 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
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural... OMIM:180800
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation... OMIM:243180
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity OMIM:616494
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Truncal ataxia, Limb a... OMIM:617560
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, L... OMIM:614561
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... OMIM:236792
Waardenburg Syndrome, Type 3
Partial albinism, Aganglionic megacolon, Synophrys, Blue irides, Hypopigmented skin patches, Prem... OMIM:148820
Developmental And Epileptic Encephalopathy 14
Delayed CNS myelination, Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervo... OMIM:614959
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ... OMIM:131960
Autosomal Spastic Paraplegia Type 58
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... ORPHA:397946
Hereditary Methemoglobinemia
Cerebellar atrophy, Delayed myelination, Temporal cortical atrophy, Spastic tetraplegia, Spastici... ORPHA:621
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Pelizaeus-Merzbacher Disease
Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Reduction of oligodendrogl... OMIM:312080
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo... ORPHA:894
Corpus Callosum, Partial Agenesis Of, X-Linked
High palate, Hydrocephalus, Aganglionic megacolon OMIM:304100
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Corpus callosum atrophy, Rigidity, Dysphagia, Bradykinesia, Gliosis, Apraxia, CNS d... OMIM:221820
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Seizure, Fair hair, Incoordination, Gait ataxia OMIM:618808
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P... OMIM:613266
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, CNS hypomyelinatio... OMIM:607694
Krabbe Disease
Diffuse cerebral atrophy, Optic atrophy, Seizure, Hypertonia, Neurodegeneration, Vomiting, Progre... OMIM:245200
Pyknoachondrogenesis
Stillbirth OMIM:265880
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Babinski sign, Gait ataxia, Seizure, Dysphagia, CNS demyelination, Peripher... OMIM:249900
Spinocerebellar Ataxia 17
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, D... OMIM:607136
Ceroid Lipofuscinosis, Neuronal, 7
Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener... OMIM:610951
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... ORPHA:89838
Leukodystrophy, Hypomyelinating, 15
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, CNS hypomyelination, Dysph... OMIM:617951
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism OMIM:300650
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... ORPHA:69125
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Hypopigmentation of hair,... ORPHA:3440
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
L1 Syndrome
Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon ORPHA:275543
Stxbp1-Related Encephalopathy
Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo... ORPHA:599373
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... OMIM:143100
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Gastroesophageal ... OMIM:613477
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, CNS hypomyelination, Gait... OMIM:614381
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... OMIM:620378
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... OMIM:615957
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... OMIM:614895
Leukodystrophy, Hypomyelinating, 2
Dystonia, Ataxia, Demyelinating motor neuropathy, Rigidity, Head titubation, Babinski sign, Cereb... OMIM:608804
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Leukodystrophy, Dystonia, Oculomot... OMIM:612438
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Tetraplegia, CNS hypomyelin... ORPHA:369939
Hirschsprung Disease
Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th... ORPHA:388
Griscelli Syndrome Type 1
Partial albinism, Ataxia, White hair, Premature graying of hair, Seizure, Hypertonia, Iris hypopi... ORPHA:79476
Adducted Thumbs Syndrome
Myelin-dependent gliosis, Cerebral dysmyelination, High, narrow palate, Velopharyngeal insufficie... OMIM:201550
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc... OMIM:615362
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Delayed myelination, Seizure, Myoclonus, Atypical ... OMIM:617391
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Tremor-Ataxia-Central Hypomyelination Syndrome
Ataxia, Postural tremor, Babinski sign, Dysmetria, CNS hypomyelination, Spastic dysarthria, Clums... ORPHA:447896
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizur... OMIM:612437
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... ORPHA:497764
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebellar atrophy, Highly arched eyebrow, Synophrys, Cerebral atrophy, CNS hypomyelination, Long... OMIM:619286
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Spinocerebellar Ataxia, Autosomal Recessive 4
Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn... OMIM:607317
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Babinski sign, Hand tremor, Frequent falls, Onion bulb formation, Peripheral demyelination OMIM:618279
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... OMIM:604484
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Onion bulb formation, Gait ataxia, Impaired oropharyngeal swa... ORPHA:98916
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Abnormal pyramidal sign, Tetraplegia, Cerebral atrophy, Dystonia, Cerebral hy... OMIM:300475
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Hyp... OMIM:609260
Intellectual Developmental Disorder, X-Linked 104
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Seizure, Frontal upsweep of hair, Spastic... OMIM:300983
Neuromyelitis Optica Spectrum Disorder
Neuronal loss in central nervous system, Paraplegia, Peripheral demyelination, Nausea ORPHA:71211
Null Syndrome
Ataxia, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, Peripheral demyelin... ORPHA:280234
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Seizure, Ataxia OMIM:213000
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Gliosis, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Caudate atrophy, Babinski sign, Cerebral atrophy, Seizure, Axonal loss, Myoclonus, Apraxia, Spast... OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen... OMIM:606483
Spastic Ataxia 5, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor ... OMIM:614487
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Dystonia, Paralysis, Athetosis, Gliosis, Dysphagia OMIM:300857
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Limb dystonia, Sp... OMIM:619125
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Congenital Central Hypoventilation Syndrome
Abnormality of the autonomic nervous system, Aganglionic megacolon ORPHA:661
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c... ORPHA:90117
Spastic Paraplegia 44, Autosomal Recessive
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelination,... OMIM:613206
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... ORPHA:98769
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... OMIM:619565
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus OMIM:616187
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spasticity, Cerebel... OMIM:213200
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonis... ORPHA:300605
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity OMIM:611105
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Gait ataxia, Hype... OMIM:601098
4H Leukodystrophy
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokin... ORPHA:289494
Sandhoff Disease, Adult Form
Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Spasticity, Sensory axo... ORPHA:309169
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,... OMIM:105550
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:145900
Giant Axonal Neuropathy
Babinski sign, CNS hypomyelination, Woolly hair, Spasticity, Pili canaliculi ORPHA:643
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,... OMIM:118200
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Charcot-Marie-Tooth Disease, Type 4C
Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... OMIM:601596
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy OMIM:617018
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... ORPHA:101111
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number... OMIM:271245
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Babinski sign, Cerebral atro... OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Babinski sign, Spasticity, Frequent falls, S... OMIM:619742
Charcot-Marie-Tooth Disease, Type 4K
Axonal loss, Ataxia, Peripheral demyelination, Dystonia OMIM:616684
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Hyperpigmentation of the skin, Death in childhood OMIM:302000
Developmental And Epileptic Encephalopathy 79
Frontotemporal cerebral atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination OMIM:618559
Subacute Inflammatory Demyelinating Polyneuropathy
Symmetric peripheral demyelination, Demyelinating motor neuropathy, Tremor, Choreoathetosis, Axon... ORPHA:206594
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Torticollis, White eyelashes, White eyebrow, Ataxia, Cerebral dysmyelination, Dysmyelinating leuk... OMIM:609136
Pelizaeus-Merzbacher Disease, Transitional Form
Spastic tetraparesis, CNS hypomyelination ORPHA:280224
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination, Abnormal pyramidal sign ORPHA:85163
Spinocerebellar Ataxia 37
Cerebellar atrophy, Ataxia, Tremor, Dysphagia, Frequent falls OMIM:615945
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Spinocerebellar Ataxia, Autosomal Recessive 27
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Dys... OMIM:618369
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... OMIM:301830
Leukodystrophy, Hypomyelinating, 5
Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hypomyelination, Leukodystrophy, ... OMIM:610532
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetraparesis, Dyst... OMIM:615924
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia OMIM:141500
Diaminopentanuria
Seizure, Spasticity, Neurodegeneration, Ataxia OMIM:222350
Lichtenstein-Knorr Syndrome
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cafe-au-lait... OMIM:616291
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Prominent eyelashes, Cerebral atrophy, CNS hypomyelination, Hyperkinetic movements... OMIM:616420
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... OMIM:302800
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
Ataxia, CNS hypomyelination ORPHA:88637
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia, Pachygyria, Perisylvian polymicrogyria, Lissenceph... ORPHA:171680
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Myoclonic-Atonic Epilepsy
Delayed CNS myelination, Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-mo... OMIM:616421
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Facial palsy OMIM:159950
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ... ORPHA:330050
Developmental And Epileptic Encephalopathy 78
Chorea, Cerebral palsy, Spasticity, CNS hypomyelination OMIM:618557
Spasticity, Childhood-Onset, With Hyperglycinemia
Spastic ataxia, Babinski sign, Abnormal pyramidal sign, Spastic diplegia, Leukodystrophy, Spasticity OMIM:616859
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T... ORPHA:2386
Aland Island Eye Disease
Albinism OMIM:300600
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Brain... ORPHA:52430
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... OMIM:615035
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Delayed myelination, Chorea, Frontotemporal cer... ORPHA:79097
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... ORPHA:2251
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... ORPHA:204
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower... ORPHA:438114
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Frontotemporal Dementia With Motor Neuron Disease
Weakness due to upper motor neuron dysfunction, Parkinsonism, Degeneration of the lateral cortico... ORPHA:275872
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Autosomal Recessive Spastic Paraplegia Type 35
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Bowel incontinence, Spastic tetr... ORPHA:171629
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur... ORPHA:101097
Epidermolysis Bullosa Acquisita
Abnormal hair morphology, Inflammation of the large intestine, Nail dystrophy, Hyperpigmentation ... ORPHA:46487
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Peripheral demyelination, Axonal regeneration OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Vocal cor... OMIM:607706
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Dysmyelinating... OMIM:612319
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Cerebellar atrophy, Delayed CNS myelination, Bilateral tonic-clonic seizure, Parkinsonism, Rigidi... OMIM:300423
Secondary Short Bowel Syndrome
Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... ORPHA:95427
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Gliosis, Neuronal loss... OMIM:604218
Primary Dystonia, Dyt27 Type
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... ORPHA:464440
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst... OMIM:618425
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Abnormal hair whorl, Delayed myelination, Cerebral atrophy, CNS hypomyelina... OMIM:614261
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Dystrophic toenail, Fasciculations, Perip... OMIM:600882
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Pachygyria, Aganglionic megacolon, Malabsorption ORPHA:452
Developmental And Epileptic Encephalopathy 4
Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Chore... OMIM:612164
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-... ORPHA:36387
Leukoencephalopathy With Vanishing White Matter 1
Cerebral hypomyelination, Spasticity, CNS demyelination, Gliosis OMIM:603896
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu... OMIM:607250
Spinocerebellar Ataxia 23
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, CNS demyelination... OMIM:610245
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni... OMIM:617831
Waardenburg Syndrome, Type 2E
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu... OMIM:611584
Bresek Syndrome
Neonatal death, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate ORPHA:85284
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Leigh Syndrome
Ataxia, Pigmentary retinopathy, Gliosis, Dystonia, CNS demyelination, Spasticity, Hypertrichosis OMIM:256000
Classic Phenylketonuria
Hypopigmentation of hair, Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia, Hypopigmentation o... ORPHA:79254
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Gliosis, Myoclonus, Dysphagia, Spasticity OMIM:225753
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... ORPHA:79133
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, Ataxia, CNS hypomyelination OMIM:619688
Spinocerebellar Ataxia Type 31
Cerebellar atrophy, Spasticity, Tremor, Gait ataxia ORPHA:217012
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Rigidity, CNS hypomyelination, Choreoathetosis, Hypertonia, High palate OMIM:620023
Developmental And Epileptic Encephalopathy 86
Dystonia, CNS hypomyelination OMIM:618910
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Dystonia 27
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... OMIM:616411
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy OMIM:105500
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebellar atrophy, Delayed CNS myelination, Babinski sign, Cerebral atrophy, Pigmentary retinopa... OMIM:619090
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Lower limb spasticity, Ataxia, Babinski sign, Spastic diplegia, CNS hypomyelination OMIM:615281
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis, Tremor ORPHA:66633
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, CNS hypomyelination, Neurodegeneration, Gliosis, Spasticity, Neuronal loss in... OMIM:616239
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Vogt-Koyanagi-Harada Disease
Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen... ORPHA:3437
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Hypertonia, Gliosis, Spasticity OMIM:615095
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Sparse eyebrow, Syno... OMIM:617193
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo... OMIM:618587
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Synophrys, Cerebral atrophy, CNS hypomyelina... OMIM:619260
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology OMIM:605253
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire... OMIM:615400
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Peripheral demyelination, Axonal degeneration/regeneration, Dysphagia OMIM:607736
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Combined Saposin Deficiency
Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations, CNS demyelination, Neuronal los... OMIM:611721
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ... ORPHA:412066
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... ORPHA:101110
Parkinson Disease 2, Autosomal Recessive Juvenile
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia OMIM:600116
Multiple Mitochondrial Dysfunctions Syndrome 5
Pigmentary retinopathy, Delayed myelination, Leukodystrophy, Spasticity OMIM:617613
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Pelizaeus-Merzbacher Disease, Classic Form
Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Titubation, Athetosis, Abnormality of extr... ORPHA:280219
Pontocerebellar Hypoplasia Type 1
Degeneration of anterior horn cells, Optic atrophy, Cerebral cortical atrophy ORPHA:2254
Infantile Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig... ORPHA:79263
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... OMIM:608340
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Ataxia, Seizure, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Spinocerebellar Ataxia 18
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... OMIM:607458
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Ddost-Cdg
Tremor, Oromotor apraxia, Gastroesophageal reflux, CNS hypomyelination ORPHA:300536
Leukodystrophy, Hypomyelinating, 22
Lower limb hypertonia, Babinski sign, Upper limb hypertonia, CNS hypomyelination OMIM:619328
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... OMIM:105400
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Spinocerebellar Ataxia 40
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis... OMIM:616053
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... OMIM:605285
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Delayed CNS myelination, CNS hypomyelination, Hypertonia, Gastroesophageal reflux, Spasticity OMIM:616577
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Facial palsy OMIM:615348
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... OMIM:606070
Neurodegeneration With Brain Iron Accumulation 7
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dysphagia... OMIM:617916
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Bowel incontinence, Corpus callosum atrophy, Babinski... OMIM:169500
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy OMIM:608673
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy OMIM:617892
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
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, High palate, Cerebellar vermis atrophy, CNS hypomyelination OMIM:615760
Huntington Disease-Like 1
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... ORPHA:157941
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed CNS myelination, Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, ... OMIM:614498
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:616437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls ORPHA:494526
Developmental And Epileptic Encephalopathy 29
Chorea, Cerebral atrophy, CNS hypomyelination, Blepharospasm, Limb dystonia, Spasticity OMIM:616339
Lethal Congenital Contracture Syndrome 8
Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Oral-pharyngeal dysphagia OMIM:616287
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system OMIM:608030
Deafness-Vitiligo-Achalasia Syndrome
Achalasia, Hypopigmented skin patches ORPHA:3239
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Adenylosuccinase Deficiency
Cerebellar atrophy, Cerebral atrophy, Gait ataxia, CNS hypomyelination, Opisthotonus, Myoclonus, ... OMIM:103050
Charcot-Marie-Tooth Disease, Type 4J
Axonal loss, Onion bulb formation, Peripheral hypomyelination, Frequent falls OMIM:611228
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, High palate, Myoclonus, CNS hypomyelination OMIM:616158
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel... OMIM:609311
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... OMIM:600363
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Torticollis, Limb dystonia, Parkinsonism, Gait ataxia, Bradyk... ORPHA:71517
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Pigmentary retinopathy, Progressive cere... OMIM:164500
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati... OMIM:604360
Rhombencephalosynapsis
Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophagea... ORPHA:59315
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Jejunal atresia, High, narrow palate, Spasticity, Narrow palate, Myoclonus, Cerebral hypomyelinat... OMIM:612949
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor... ORPHA:79262
Multiple Mitochondrial Dysfunctions Syndrome 4
Spasticity, Leukodystrophy OMIM:616370
Haddad Syndrome
Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology ORPHA:99803
Spinocerebellar Ataxia Type 38
Cerebellar atrophy, Tremor, Gait ataxia ORPHA:423296
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Developmental And Epileptic Encephalopathy 75
Babinski sign, Spasticity, CNS hypomyelination, Frontal cortical atrophy, Cerebral cortical atrophy OMIM:618437
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, Spastic tetraparesis, Cerebral atrophy, CNS hypomyelination OMIM:618012
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Spastic Ataxia 2, Autosomal Recessive
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... OMIM:611302
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Neuropathy, Congenital Hypomyelinating, 3
Cerebellar atrophy, Babinski sign, Narrow palate, CNS hypomyelination, High palate, Gastroesophag... OMIM:618186
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge... ORPHA:2590
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Epi... OMIM:612736
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Chronic Inflammatory Demyelinating Polyneuropathy
Peripheral demyelination, Segmental peripheral demyelination/remyelination ORPHA:2932
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough OMIM:263000
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Leukodystrophy, Dystonia OMIM:616763
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Abnormal pyramidal sign, Leukodystrophy, Dystonia OMIM:619196
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Cerebellar atrophy, Ataxia, Head titubation, Dysmetria, CNS hypomyelination, Dysphagia, Inflammat... OMIM:619708
Glycosylphosphatidylinositol Biosynthesis Defect 15
Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Generalized non-motor ... OMIM:617810
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Highly arched eyebrow, Low anterior hairline, CNS hypomyelination, Bifid uvula, Hypertonia, Lumba... OMIM:618622
Atypical Pantothenate Kinase-Associated Neurodegeneration
Limb dystonia, Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Fo... ORPHA:216873
Goldberg-Shprintzen Megacolon Syndrome
Pachygyria, Aganglionic megacolon, Cleft palate ORPHA:66629
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Seizure, Dystonia... OMIM:250100
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hypopigmentation, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generaliz... ORPHA:1816
Congenital Arthrogryposis With Anterior Horn Cell Disease
Respiratory insufficiency due to muscle weakness, Facial diplegia, Respiratory failure, Dystonia,... OMIM:611890
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... OMIM:614399
Spinocerebellar Ataxia 48
Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chore... OMIM:618093
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... OMIM:615157
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Lopes-Maciel-Rodan Syndrome
Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Abnormal pyramidal sign, Cerebral atrophy,... OMIM:617435
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... OMIM:605588
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon ORPHA:261222
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Machado-Joseph Disease
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi... OMIM:109150
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Broad eyebrow, Ataxia, Severe demyelination of the white matter, CNS hypomyelination, High palate... ORPHA:481152
Cerebrooculofacioskeletal Syndrome 1
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Neurodegeneration, Gliosis, Br... OMIM:214150
Posterior Column Ataxia With Retinitis Pigmentosa
Bone spicule pigmentation of the retina, Ataxia, Optic atrophy, Pigmentary retinopathy, Achalasia... OMIM:609033
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:604563
Congenital Ptosis
Cafe-au-lait spot, Piebaldism, Long eyelashes ORPHA:91411
Beta-Propeller Protein-Associated Neurodegeneration
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... ORPHA:329284
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro... ORPHA:363710
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Spinocerebellar Ataxia 12
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... OMIM:604326
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Spasticity, Diffuse demyelination of ... ORPHA:168486
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Curly hair, Facial palsy, Spastic paraple... OMIM:256850
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... ORPHA:251282
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign... ORPHA:98762
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ileus, Hypopigmente... ORPHA:163746
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles