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 0.7% (4 of 573)
aorta 0.18% (1 of 571)
bone 0.0%
brain 0.53% (3 of 570)
brainstem 0.35% (2 of 564)
brown adipose tissue 0.0%
cartilage tissue 0.18% (1 of 569)
cecum 3.33% (12 of 360)
cerebellum 0.53% (3 of 565)
cerebral cortex 0.35% (2 of 565)
esophagus 1.8% (7 of 389)
eye 0.0%
gall bladder 0.0%
heart 0.35% (2 of 566)
hippocampus 0.53% (3 of 571)
hypothalamus 0.36% (2 of 560)
kidney 3.72% (21 of 565)
large intestine 1.78% (10 of 561)
liver 0.0%
lower urinary tract 0.0%
lung 0.35% (2 of 577)
lymph node 0.18% (1 of 566)
mammary gland 0.0%
mesenteric lymph node 0.0%
olfactory lobe 0.18% (1 of 553)
oral epithelium 0.0%
ovary 0.18% (1 of 566)
oviduct 0.0%
pancreas 0.89% (5 of 559)
parathyroid gland 0.18% (1 of 546)
peripheral nervous system 0.35% (2 of 574)
peyers patch 0.0%
pituitary gland 0.18% (1 of 570)
prostate gland 1.77% (10 of 564)
skeletal muscle 0.0%
skin 0.18% (1 of 563)
small intestine 1.59% (9 of 565)
spinal cord 0.53% (3 of 566)
spleen 0.53% (3 of 566)
stomach 2.12% (12 of 565)
striatum 0.53% (3 of 567)
testis 1.05% (6 of 572)
thymus 0.18% (1 of 567)
thyroid gland 2.84% (16 of 563)
trachea 0.53% (3 of 562)
trigeminal v nerve 0.0%
urinary bladder 0.0%
uterus 0.0%
vas deferens 4.03% (15 of 372)
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
Senile Plaque Formation
Senile plaques OMIM:269800
Graying Of Hair, Precocious
Premature graying of hair OMIM:139100
Occipital Hair, White Lock Of
White hair, Abnormal hair morphology OMIM:310900
Albinism-Deafness Syndrome
Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, 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
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... 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
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Linear Atrophoderma Of Moulin
Linear hyperpigmentation ORPHA:140933
Griscelli Syndrome, Type 3
Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes OMIM:609227
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
Loose Anagen Hair Syndrome
Loose anagen hair, Sparse hair, Fair hair OMIM:600628
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Albinism, Oculocutaneous, Type Iii
Partial albinism, Albinism, Red hair OMIM:203290
Piebald Trait
Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... OMIM:172800
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... ORPHA:42665
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Griscelli Syndrome Type 3
Partial albinism, Hypopigmentation of hair, Iris hypopigmentation ORPHA:79478
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 1
Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... OMIM:214450
Dilution, Pigmentary
Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin OMIM:126070
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Spotty hypopigmentation, 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, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Cerebellar Ataxia And Albinism
Albinism OMIM:258300
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Book Syndrome
Premature graying of hair OMIM:112300
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss
Alopecia of scalp, Dystrophic toenail, Alopecia, Hypopigmentation of the skin, Onychogryposis of ... OMIM:617294
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Oculocutaneous Albinism Type 3
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... ORPHA:79433
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Generalized hyperpigmentation, Rigidity, Hypopigmentation of the skin, Subcortical... ORPHA:33445
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2435
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abnormality of enteric ganglion morphology, Enterocolitis OMIM:142623
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dysphagia, Axonal loss, Cerebellar atrophy, Rigidity, Chorea, Peripheral demyelination, Neurodege... OMIM:617672
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
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
Albinism, Oculocutaneous, Type Vii
Albinism OMIM:615179
Piebaldism
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... ORPHA:2884
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Progressive hyperpigmentation, Hyperme... OMIM:145250
Ermine Phenotype
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow OMIM:227010
X-Linked Complicated Corpus Callosum Dysgenesis
Aganglionic megacolon ORPHA:1497
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia ORPHA:1410
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Seizure, Accumulation of melanosomes in melanocyt... OMIM:607624
Corpus Callosum, Partial Agenesis Of, X-Linked
Aganglionic megacolon, Hydrocephalus OMIM:304100
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Spastic Paraplegia With Neuropathy And Poikiloderma
Onion bulb formation, Absent eyebrow, Absent eyelashes, Demyelinating sensory neuropathy, Demyeli... OMIM:182815
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Roussy-Levy Hereditary Areflexic Dystasia
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Acti... OMIM:180800
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Blue irides, Aganglionic megacolon, White eyelashes, Heterochromia ir... OMIM:613265
Waardenburg Syndrome, Type 2B
Heterochromia iridis, White forelock, Premature graying of hair OMIM:600193
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Tietz Albinism-Deafness Syndrome
Blue irides, White eyebrow, Generalized hypopigmentation, White eyelashes OMIM:103500
Oculocutaneous Albinism
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... ORPHA:55
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Progressive spasticity, Cerebellar atrophy, Head titubation, Hirsutism, Leukodystrophy, Ataxia, C... ORPHA:527497
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Oculocutaneous Albinism Type 2
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... ORPHA:79432
Waardenburg Syndrome, Type 4A
Blue irides, Hypopigmented skin patches, Aganglionic megacolon, Leukodystrophy, White eyelashes, ... OMIM:277580
Developmental And Epileptic Encephalopathy 14
Clonus, Neuronal loss in central nervous system, Gliosis, Tetraplegia, Spasticity, Cerebral corti... OMIM:614959
Elejalde Disease
Silver-gray hair, Hypopigmentation of the skin, Seizure, Ataxia, Accumulation of melanosomes in m... OMIM:256710
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
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... OMIM:606482
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Onych... OMIM:131960
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... OMIM:607734
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis
Seizure, Status epilepticus, Delayed myelination OMIM:618331
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... ORPHA:208981
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, Dysphagia, CNS demyelination, Peripheral demyelination, Decreased nerve conduction... OMIM:249900
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Functional intestinal obstruction, Intestin... OMIM:243180
Colonic Varices Without Portal Hypertension
Intestinal bleeding, Colonic varices OMIM:120440
Optic Atrophy With Demyelinating Disease Of Cns
Optic atrophy, CNS demyelination, Peripheral demyelination, Hemiparesis, Ataxia OMIM:165200
Krabbe Disease
Progressive spasticity, Optic atrophy, CNS demyelination, Vomiting, Neurodegeneration, Peripheral... OMIM:245200
Tremor Of Intention, Ataxia, And Lipofuscinosis
Ataxia, Premature graying of hair, Intention tremor OMIM:190200
Periventricular Nodular Heterotopia 8
Seizure, Delayed myelination OMIM:618185
Microcephaly 10, Primary, Autosomal Recessive
Cerebellar atrophy, Gliosis, Hypertonia, Spasticity, Cerebral atrophy, CNS hypomyelination, Delay... OMIM:615095
Optic Atrophy 2
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy OMIM:311050
Albinism, Oculocutaneous, Type Iv
Blue irides, Hypopigmentation of hair, Albinism OMIM:606574
Spinocerebellar Ataxia, Autosomal Recessive 27
Dysphagia, Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy... OMIM:618369
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Pyknoachondrogenesis
Stillbirth OMIM:265880
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Symmetric periphe... ORPHA:206594
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Leukodystrophy, Tremor, Ataxia, Seizure, Spasticity... OMIM:614561
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, Nail dysplasia, Mixed hy... ORPHA:79397
Autosomal Spastic Paraplegia Type 58
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Periph... ORPHA:397946
Leukodystrophy, Hypomyelinating, 6
Cerebellar atrophy, Rigidity, Choreoathetosis, Cerebral hypomyelination, Leukodystrophy, Tremor, ... OMIM:612438
Waardenburg Syndrome, Type 2A
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... OMIM:193510
Albinism, Oculocutaneous, Type Ia
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... OMIM:203100
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Seizure, Gait ataxia, Incoordination, Fair hair OMIM:618808
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Null Syndrome
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, CNS hypomye... ORPHA:280234
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Waardenburg Syndrome Type 2
Hypopigmented skin patches, Aganglionic megacolon, White forelock, Heterochromia iridis, Hypopigm... ORPHA:895
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
CNS demyelination, Rigidity, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Apra... OMIM:221820
Leukodystrophy, Hypomyelinating, 2
Progressive spasticity, Babinski sign, Head titubation, Rigidity, Choreoathetosis, Cerebral hypom... OMIM:608804
Albinism, Oculocutaneous, Type Vi
Abnormal hair morphology, Generalized hypopigmentation OMIM:113750
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... OMIM:614895
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... ORPHA:69125
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Babinski sign, Dysphagia, Cerebellar atrophy, Dysmetria, Leukodystrophy, Ataxia,... OMIM:607694
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism OMIM:300650
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue OMIM:174300
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Aganglionic megacolon, Abnormal eyebrow morphology, Heterochromia iri... ORPHA:2885
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, Peripheral demyelination, Decreased nerve conduction velocity, Spasti... OMIM:609136
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... OMIM:606483
Leukodystrophy, Hypomyelinating, 11
Cerebellar atrophy, Leukodystrophy, Tremor, Ataxia, Spasticity OMIM:616494
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis ORPHA:275543
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Hand tremor, Gliosis, Axonal degeneration, Fasciculations, Tetraplegia, Decreased number of perip... OMIM:604484
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Woolly Hair
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... ORPHA:170
Alpha-Methylacyl-Coa Racemase Deficiency
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity, Pigmentary retinopathy OMIM:614307
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... OMIM:601098
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... ORPHA:497764
Adducted Thumbs Syndrome
High, narrow palate, Dysphagia, High palate, Hypertrichosis, Cleft palate, Myelin-dependent glios... OMIM:201550
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebellar atrophy, Cerebral hypomyelination, Tetraplegia, Cerebral atrophy, CNS hypomyelination,... OMIM:300475
Huntington Disease
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... OMIM:143100
Episodic Ataxia, Type 1
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia OMIM:160120
Spinocerebellar Ataxia 17
Dysphagia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syst... OMIM:607136
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Optic atrophy, Ax... OMIM:609260
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Cerebellar atrophy, Cerebral hypomyelination, Tetraplegia, Corpus callosum atrophy, Brain atrophy... ORPHA:369939
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Absent toenail, Ridged nail, Hyperpigmentation of the skin, Hypopigmentation ... ORPHA:89838
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Pigmentary retinopathy, Generalized... OMIM:610951
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacol... ORPHA:388
Amyotrophic Lateral Sclerosis 4, Juvenile
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Axonal degeneration, ... OMIM:602433
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Axonal loss, Caudate atrophy, Peripheral demyelination, Myoclonus, Seizure, Spasti... OMIM:221770
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... OMIM:601596
Griscelli Syndrome Type 1
Partial albinism, White hair, Seizure, Ataxia, Hypertonia, Iris hypopigmentation, Premature grayi... ORPHA:79476
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Hidrotic Ectodermal Dysplasia
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... ORPHA:189
Albinism, Oculocutaneous, Type Ii
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... OMIM:203200
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Tremor, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial... ORPHA:90117
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Highly arched eyebrow, Hirsutism, CNS demyelination, Low anterior hairline, Peripheral demyelinat... OMIM:220111
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Dysmetria, Sensory axonal neuropathy, Tremor, Atonic seizure, Generalized myocloni... OMIM:612437
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... OMIM:118200
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Spotty hyperpigmentation, Mixed hy... ORPHA:79399
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocephalus OMIM:613603
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral demyelination, Peripheral axonal neuropathy, Paraparesis ORPHA:231445
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Peripheral demyelination, Neuronal loss in central nervous system, Nausea ORPHA:71211
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity OMIM:162600
Tremor-Ataxia-Central Hypomyelination Syndrome
Clumsiness, Postural tremor, Babinski sign, Dysphagia, Dysmetria, Spastic dysarthria, Leukodystro... ORPHA:447896
Developmental And Epileptic Encephalopathy 5
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Cerebral a... OMIM:613477
Leukodystrophy, Hypomyelinating, 13
Clonus, Leukodystrophy, Ataxia, Hypertonia, Spasticity, Delayed myelination OMIM:616881
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... OMIM:162500
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity OMIM:608236
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Highly arched eyebrow, Cerebellar atrophy, Long eyelashes, Spasticity, Cerebral atrophy, CNS hypo... OMIM:619286
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelin... OMIM:605285
Ondine Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system ORPHA:661
Spinocerebellar Ataxia 25
Babinski sign, Cerebellar atrophy, Vomiting, Ataxia, Decreased number of peripheral myelinated ne... OMIM:608703
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Sei... OMIM:617862
Spinocerebellar Ataxia Type 15/16
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... ORPHA:98769
Hereditary Methemoglobinemia
Athetosis, Cerebellar atrophy, Temporal cortical atrophy, Cerebral hypomyelination, Global brain ... ORPHA:621
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Tremor, Ataxia, Seizure, Spasticity, Delayed CNS myelination, Frontal upsweep of h... OMIM:300983
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... OMIM:118220
Hypotrichosis 8
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... OMIM:278150
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Onion bulb formation, Frequent falls OMIM:618279
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal degeneration, Chorea,... OMIM:604168
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
White Forelock With Malformations
Poliosis, White forelock OMIM:277740
Epilepsy, Progressive Myoclonic 7
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Seizure OMIM:616187
Spinocerebellar Ataxia 23
Babinski sign, Cerebellar atrophy, CNS demyelination, Dysmetria, Neuronal loss in central nervous... OMIM:610245
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Abnormal lower m... OMIM:105550
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Giant Axonal Neuropathy
Babinski sign, Spasticity, Woolly hair, CNS hypomyelination, Pili canaliculi ORPHA:643
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Peripheral axonal neuropathy, Tremor, Ataxia, Spasticity OMIM:611105
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Abnormal intestine morphology, Aganglionic megacolon, Abnorm... ORPHA:897
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Hyperpigmentation of the skin, Death in childhood OMIM:302000
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of the skin, Ocular albinism OMIM:601220
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... OMIM:615362
Spinocerebellar Ataxia, Autosomal Recessive 2
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia OMIM:213200
Spinocerebellar Ataxia 43
Rigidity, Tremor, Ataxia, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia OMIM:617018
Developmental And Epileptic Encephalopathy 54
Seizure, Delayed myelination OMIM:617391
Charcot-Marie-Tooth Disease, Type 4A
Axonal degeneration, Peripheral hypomyelination, Basal lamina onion bulb formation, CNS hypomyeli... OMIM:214400
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Dysphagia, Cerebellar atrophy, Dysmetria, Cerebral hypomyelination, Leukodystrophy, Intention tre... OMIM:614381
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Developmental And Epileptic Encephalopathy 79
CNS hypomyelination, Frontotemporal cerebral atrophy, Cerebral cortical atrophy, Spasticity OMIM:618559
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Onion bulb formation, Babinski sign, Dysphagia, Decreased motor nerve conduction velocity, Periph... OMIM:302800
Primary Orthostatic Tremor
Tremor, Abnormality of extrapyramidal motor function ORPHA:238606
Pelizaeus-Merzbacher Disease, Transitional Form
Spastic tetraparesis, CNS hypomyelination ORPHA:280224
Chronic Inflammatory Demyelinating Polyneuropathy
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... ORPHA:2932
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
4H Leukodystrophy
Dysphagia, Cerebellar atrophy, Dysmetria, Cerebral hypomyelination, Abnormality of extrapyramidal... ORPHA:289494
Epilepsy, Familial Adult Myoclonic, 5
Bilateral tonic-clonic seizure, Tremor, Seizure, Focal sensory seizure, Focal sensory seizure wit... OMIM:615400
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Clonus, Myoclonic spasms, Rigidity, Neuronal loss in central nervous system, Glios... OMIM:614498
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Hypomyelination-Congenital Cataract Syndrome
Cerebral hypomyelination, Abnormal pyramidal sign ORPHA:85163
Kaya-Barakat-Masson Syndrome
Cerebellar atrophy, Spastic tetraplegia, Spasticity, Cerebral atrophy, CNS hypomyelination OMIM:619125
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... OMIM:608340
Spinocerebellar Ataxia Type 25
Babinski sign, Vomiting, Decreased number of large peripheral myelinated nerve fibers, Diffuse ce... ORPHA:101111
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3
Tremor, Ataxia, Slurred speech OMIM:613227
Mitochondrial Complex Iv Deficiency, Nuclear Type 17
Spastic tetraparesis, Ataxia, Cavitating leukodystrophy OMIM:619061
Spastic Paraplegia 55, Autosomal Recessive
Onion bulb formation, Babinski sign, Clonus, Peripheral axonal neuropathy, Optic atrophy, Spastic... OMIM:615035
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Facial palsy, Frontal cortical atrophy, Amyotrophic lateral sclerosis, Temporal cortical atrophy OMIM:167320
Spinocerebellar Ataxia 37
Dysphagia, Cerebellar atrophy, Frequent falls, Tremor, Ataxia OMIM:615945
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers
Cerebral hypomyelination, Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy OMIM:601170
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Diaminopentanuria
Seizure, Ataxia, Spasticity, Neurodegeneration OMIM:222350
Urocanase Deficiency
Blue irides, Ataxia, Fair hair, Tremor OMIM:276880
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Facial palsy, Degeneration of anterior horn cells OMIM:159950
Charcot-Marie-Tooth Disease, Type 4J
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Frequent falls, Dec... OMIM:611228
Migraine, Familial Hemiplegic, 1
Cerebellar atrophy, Hemiparesis, Tremor, Seizure, Ataxia, Hemiplegia OMIM:141500
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Onion bulb formation, Acute demyelinating polyneuropathy, Impaired oropharyngeal swallow response ORPHA:98916
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Combined Oxidative Phosphorylation Deficiency 24
Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gliosis, Spastici... OMIM:616239
Leukoencephalopathy with metaphyseal chondrodysplasia
Spastic paraplegia, Babinski sign, Diffuse cerebral atrophy, Tremor OMIM:300660
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Spasticity, Childhood-Onset, With Hyperglycinemia
Babinski sign, Leukodystrophy, Spastic ataxia, Spastic diplegia, Spasticity, Abnormal pyramidal sign OMIM:616859
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Leukoencephalopathy, Progressive, With Ovarian Failure
Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Apraxia, Spasticity OMIM:615889
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Axonal loss, Frequent falls, Peripheral demyelination, Vocal cord... ORPHA:101097
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Cranial nerve compression, Amyotrophic lateral sclerosis, Brain atrophy, Abnormal motor neuron mo... ORPHA:52430
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, High palate, Myoclonus, Delayed myelination OMIM:616158
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Clumsiness, Hypertonia, Slurred speech, Tetraparesis, Decreased number of peripheral myelinated n... ORPHA:2386
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of the skin OMIM:618541
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Degeneration of anterior horn cells OMIM:301830
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Dystrophic toenail, ... OMIM:600882
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Onion bulb formation, Axonal regeneration OMIM:615185
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Intellectual Developmental Disorder, Autosomal Recessive 6
Involuntary movements, Seizure, Myoclonus, Tremor OMIM:611092
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis
Tremor, High palate, Spastic paraplegia OMIM:309560
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema
Dysphagia, Inflammation of the large intestine, Cerebral hypomyelination, Chronic gastritis, Spas... OMIM:608809
Sporadic Creutzfeldt-Jakob Disease
Babinski sign, Neuronal loss in central nervous system, Myoclonus, Abnormality of extrapyramidal ... ORPHA:204
Methionine Adenosyltransferase I/Iii Deficiency
Peripheral demyelination, CNS demyelination OMIM:250850
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:118210
Spastic Paraplegia 50, Autosomal Recessive
Babinski sign, High palate, Cerebellar atrophy, Cerebral palsy, Gliosis, Spastic tetraplegia, Spa... OMIM:612936
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Leukodystrophy, Spasticity, Pigmentary retinopathy OMIM:617613
Developmental And Epileptic Encephalopathy 78
Cerebral palsy, Chorea, CNS hypomyelination, Spasticity OMIM:618557
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Dysphagia, Degeneration of the lateral corticospinal tracts, Weakness due to upper... ORPHA:275872
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Pelizaeus-Merzbacher disease
Leukodystrophy, Abnormal CNS myelination DECIPHER:38
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Babinski sign, Cerebellar atrophy, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Seizur... OMIM:300423
Neuronopathy, Distal Hereditary Motor, Type Viib
Facial palsy, Abnormal lower motor neuron morphology OMIM:607641
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Dyskinesia, Limb And Orofacial, Infantile-Onset
Frequent falls, Chorea, Tremor, Seizure, Hyperkinetic movements, Hemiballismus OMIM:616921
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Babinski sign, Pigmentary retinopathy, Cerebellar atrophy, Delayed CNS myelination, Cerebral atro... OMIM:619090
Insensitivity To Pain With Hyperplastic Myelinopathy
Abnormal peripheral myelination OMIM:147530
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Babinski sign, Lower limb spasticity, Ataxia, Spastic diplegia, CNS hypomyelination OMIM:615281
Secondary Short Bowel Syndrome
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Volvulus, Malabsorpti... ORPHA:95427
Encephalopathy, Progressive, With Or Without Lipodystrophy
Neuronal loss in central nervous system, Myoclonus, Tremor, Ataxia, Seizure, Tetraparesis, Spasti... OMIM:615924
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
L-2-Hydroxyglutaric Aciduria
Cerebellar atrophy, Severe demyelination of the white matter, Global brain atrophy, Gliosis, Abno... OMIM:236792
Leukodystrophy, Hypomyelinating, 10
Babinski sign, Leukodystrophy, Hyperkinetic movements, Spasticity, Cerebral atrophy, CNS hypomyel... OMIM:616420
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration OMIM:607791
Neurodegeneration With Brain Iron Accumulation 5
Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor function, Br... OMIM:300894
Developmental And Epileptic Encephalopathy 93
Spastic tetraparesis, Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy OMIM:618012
Congenital Cataracts, Hearing Loss, And Neurodegeneration
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy OMIM:614482
Aland Island Eye Disease
Albinism OMIM:300600
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications
Delayed CNS myelination, Cerebral atrophy OMIM:618875
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Gliosis OMIM:225753
Leukoencephalopathy With Vanishing White Matter
Cerebral hypomyelination, Gliosis, CNS demyelination, Spasticity OMIM:603896
Waardenburg Syndrome, Type 2E
Blue irides, Hypopigmented skin patches, Ocular albinism, Cerebral hypomyelination, White eyelash... OMIM:611584
Charcot-Marie-Tooth Disease, Type 4K
Ataxia, Peripheral demyelination, Axonal loss OMIM:616684
Mitochondrial Complex I Deficiency, Nuclear Type 15
Seizure, Optic atrophy, Peripheral demyelination, Spastic tetraplegia OMIM:618237
Folinic Acid-Responsive Seizures
Cerebellar atrophy, Cerebral hypomyelination, Chorea, Spastic tetraparesis, Ataxia, Hypertonia, F... ORPHA:79097
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Facial palsy, Respiratory failure, Respiratory distress, Restrictive v... OMIM:614399
Developmental And Epileptic Encephalopathy 39
Cerebral hypomyelination, Spasticity OMIM:612949
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Axonal loss, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Seizure, Tongue fascic... OMIM:618170
Hypertrophic Neuropathy Of Dejerine-Sottas
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... OMIM:145900
Bresek Syndrome
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Neonatal death ORPHA:85284
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... OMIM:605253
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair, Tremor ORPHA:66633
Juvenile Amyotrophic Lateral Sclerosis
Clonus, Dysphagia, Opisthotonus, Head titubation, Upper limb spasticity, Chorea, Amyotrophic late... ORPHA:300605
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... OMIM:608673
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Progressive extrapyramidal movement disorder, Pseudobulbar paralysis, Dysmetria, Cerebral hypomye... ORPHA:438114
Amyotrophic Lateral Sclerosis 21
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... OMIM:606070
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Gliosis, Decreased nerve conduction velocity, Degeneration of anterior h... OMIM:118301
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Cerebellar atrophy, Upper limb spasticity, Cataplexy, Atrophy/Degeneration affecting the brainste... OMIM:617193
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Neuronal loss in central nervous system, Myoclonus, Abnormality of extrapyramidal motor function,... OMIM:604218
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Cerebellar atrophy, Exaggerated startle response, Spasticity, CNS hypomyelination, Delayed myelin... OMIM:618367
Galloway-Mowat Syndrome 5
Ataxia, Peripheral demyelination, Brain atrophy, Spasticity OMIM:617731
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Spinocerebellar Ataxia Type 31
Tremor, Cerebellar atrophy, Gait ataxia, Spasticity ORPHA:217012
Autosomal Recessive Spastic Paraplegia Type 35
Babinski sign, Optic atrophy, Cerebellar atrophy, Pontocerebellar atrophy, Frequent falls, Dysmet... ORPHA:171629
Classic Phenylketonuria
Paraplegia, Hypopigmentation of the skin, Tremor, Seizure, Hypertonia, Hemiplegia, Hypopigmentati... ORPHA:79254
X-Linked Lissencephaly With Abnormal Genitalia
Death in infancy, Pachygyria, Aganglionic megacolon, Malabsorption ORPHA:452
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination OMIM:311070
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus, Seizure OMIM:616366
Combined Saposin Deficiency
Babinski sign, CNS demyelination, Neuronal loss in central nervous system, Myoclonus, Fasciculati... OMIM:611721
Focal Facial Dermal Dysplasia Type I
Spotty hypopigmentation, Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Spotty ... ORPHA:79133
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Dysphagia, Peripheral demyelination, Axonal degeneration/regeneration OMIM:607736
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Babinski sign, Optic atrophy, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the b... OMIM:612319
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tremor, Atax... OMIM:617831
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... ORPHA:2251
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration OMIM:607677
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Seizure, Myoclonus, Bilateral tonic-clonic seizure OMIM:615127
Spinocerebellar Ataxia 20
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus OMIM:608687
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... ORPHA:158681
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Peripheral axonal neuropathy, Frequent falls, Myoclonus, Fasciculations, Tremor, A... OMIM:607317
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of the skin, Seizure, Ataxia, Iris hypopigmentation, Hypopigmentation of hair ORPHA:411515
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration OMIM:607731
Developmental And Epileptic Encephalopathy 76
Cerebellar atrophy, Upper limb spasticity, Lower limb spasticity, Delayed CNS myelination, Cerebr... OMIM:618468
Leigh Syndrome
Hypertrichosis, CNS demyelination, Gliosis, Ataxia, Spasticity, Pigmentary retinopathy OMIM:256000
Developmental And Epileptic Encephalopathy 97
Tremor, Seizure, Stereotypical hand wringing, Epileptic spasm OMIM:619561
Generalized Epilepsy With Febrile Seizures-Plus
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:36387
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... ORPHA:99953
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Facial palsy OMIM:615348
Spinocerebellar Ataxia 18
Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Sensory axonal neuropathy,... OMIM:607458
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:607706
Combined Oxidative Phosphorylation Deficiency 14
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Myoclonus, Gliosis, Diffuse cer... OMIM:614946
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia OMIM:213000
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Degeneration of anterior horn cells OMIM:607596
Ddost-Cdg
Tremor, Oromotor apraxia, Gastroesophageal reflux, CNS hypomyelination ORPHA:300536
Multiple Mitochondrial Dysfunctions Syndrome 4
Leukodystrophy, Spasticity OMIM:616370
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
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
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function OMIM:165300
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... OMIM:604563
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Charcot-Marie-Tooth Disease, Type 4H
Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... OMIM:609311
Neuropathy, Congenital Hypomyelinating, 3
Babinski sign, High palate, Cerebellar atrophy, Spasticity, CNS hypomyelination, Gastroesophageal... OMIM:618186
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... OMIM:618587
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... ORPHA:79435
Spastic Paraplegia 6, Autosomal Dominant
Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... OMIM:600363
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy OMIM:616437
Pick Disease Of Brain
Neuronal loss in central nervous system, Gliosis, Stereotypy OMIM:172700
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive
Optic atrophy, Peripheral demyelination, Gait ataxia OMIM:258650
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Dysphagia, Bilateral tonic-clonic seizure, Tongue thrusting, Hypopigmentation of the skin, Seizur... ORPHA:98795
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements OMIM:618425
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... OMIM:605588
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Clumsiness, Myoclonic status epilepticus, Dysphagia, Limb myoclonus, Typical absence seizure, Fre... ORPHA:2590
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:602099
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Pseudobulbar paralysis, Symmetric peripheral demyelination, Leukodystrophy, Ataxia... OMIM:169500
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90342
Infantile Neuronal Ceroid Lipofuscinosis
Clumsiness, Dysphagia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent l... ORPHA:79263
Developmental And Epileptic Encephalopathy 4
Cerebral hypomyelination, Spastic tetraplegia, Tremor, Cerebral atrophy, Spastic paraplegia OMIM:612164
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Dysphagia, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory distress, Cyanosis, Respiratory failure OMIM:263000
Spinocerebellar Ataxia 7
Babinski sign, Dysphagia, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor f... OMIM:164500
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
CNS hypomyelination, Cerebellar vermis atrophy, Cerebral atrophy OMIM:615760
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A... ORPHA:3437
Huntington Disease-Like 1
Clumsiness, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Gliosis... ORPHA:157941
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Lo... OMIM:218000
Glutathionuria
Tremor OMIM:231950
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Developmental And Epileptic Encephalopathy 75
Babinski sign, Frontal cortical atrophy, Spasticity, CNS hypomyelination, Cerebral cortical atrophy OMIM:618437
Leukodystrophy, Hypomyelinating, 9
Dysmetria, Abnormality of extrapyramidal motor function, Leukodystrophy, Intention tremor, Ataxia... OMIM:616140
Spastic Paraplegia 11, Autosomal Recessive
Babinski sign, Dysphagia, Knee clonus, Degeneration of the lateral corticospinal tracts, Spastic ... OMIM:604360
Adult Neuronal Ceroid Lipofuscinosis
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Seizure, Spa... ORPHA:79262
Alexander Disease
Diffuse demyelination of the cerebral white matter, Ataxia, Spasticity OMIM:203450
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebellar atrophy, Ataxia, Brain atrophy, Delayed CNS myelination, Tetraparesis, CNS hypomyelina... OMIM:619260
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Stereotypy,... OMIM:619580
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Peripheral demyelination, Decreased nerve conduction velocity ORPHA:99944
Congenital Neuronal Ceroid Lipofuscinosis
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Spasticity, Diffuse demyelination of ... ORPHA:168486
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Spinocerebellar Ataxia Type 20
Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... ORPHA:101110
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate, Pachygyria ORPHA:66629
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia, Esophageal atresia, Anal atresia, Tracheoesophageal... ORPHA:59315
Haddad Syndrome
Death in infancy, Aganglionic megacolon, Gastroesophageal reflux, Abnormal autonomic nervous syst... ORPHA:99803
Spinocerebellar Ataxia Type 38
Tremor, Cerebellar atrophy, Gait ataxia ORPHA:423296
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Pelizaeus-Merzbacher Disease
Sudanophilic leukodystrophy, Dysphagia, Head titubation, Choreoathetosis, Abnormal CNS myelinatio... OMIM:312080
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination, Bone spicul... OMIM:609033
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:205100
Waardenburg Syndrome Type 1
Meningocele, Aganglionic megacolon, Cleft palate, Spina bifida ORPHA:894
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis, Late ... ORPHA:2302
Adenylosuccinase Deficiency
Cerebellar atrophy, Opisthotonus, Cerebral hypomyelination, Myoclonus, Spasticity, Cerebral atrop... OMIM:103050
Pelizaeus-Merzbacher Disease, Classic Form
Athetosis, Cerebral hypomyelination, Abnormality of extrapyramidal motor function, Spastic tetrap... ORPHA:280219
Parkinson Disease 2, Autosomal Recessive Juvenile
Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Substantia nigra gliosis, Parkinsonism OMIM:600116
Neuronopathy, Distal Hereditary Motor, Type Viia
Tremor, Vocal cord paralysis, Vocal cord paresis OMIM:158580
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Highly arched eyebrow, Lumbar hypertrichosis, Low anterior hairline, Bifid uvula, Hypertonia, CNS... OMIM:618622
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Metachromatic Leukodystrophy
Babinski sign, Optic atrophy, Chorea, Peripheral demyelination, Decreased nerve conduction veloci... OMIM:250100
Harrod Syndrome
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... OMIM:601095
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination, Lower limb hypertonia, Upper limb hypertonia OMIM:619328
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Generalized hypopigmentation, Abnormal eyebrow morphology, Generaliz... ORPHA:1816
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Segawa Syndrome, Autosomal Recessive
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... OMIM:605407
Adult Krabbe Disease
Clumsiness, Babinski sign, Hoffmann sign, CNS demyelination, Frequent falls, Peripheral demyelina... ORPHA:206448
Cerebrooculofacioskeletal Syndrome 1
Gliosis, Hirsutism, Delayed myelination OMIM:214150
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Spinocerebellar Ataxia, X-Linked 3
Dysphagia, Cerebellar atrophy, Head titubation, Dysmetria, Neuronal loss in central nervous syste... OMIM:301790
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizu... ORPHA:330050
Autosomal Recessive Spastic Paraplegia Type 44
CNS hypomyelination, Ataxia, Lower limb spasticity ORPHA:320401
Spinocerebellar Ataxia Type 37
Diffuse cerebellar atrophy, Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Cerebellar verm... ORPHA:363710
Spinocerebellar Ataxia Type 12
Postural tremor, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, Bradykinesia, Inten... ORPHA:98762
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon ORPHA:261222
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Spastic tetraparesis, Cerebellar vermis atrophy, Delayed CNS myelination, ... OMIM:616154
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Dysphagia, Myoclonus, Tongue thrusting, Hypopigmentation of the skin, Delayed myelination, Tremor... ORPHA:98794
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, ... OMIM:617810
Developmental And Epileptic Encephalopathy 29
Chorea, Spasticity, Cerebral atrophy, CNS hypomyelination, Blepharospasm OMIM:616339
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Ataxia, Leukodystrophy, Abnormal pyramidal sign OMIM:619196
Peroxisomal Acyl-Coa Oxidase Deficiency
Babinski sign, Dysphagia, CNS demyelination, Leukodystrophy, Hypertonia, Pigmentary retinopathy OMIM:264470
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Small nail, Stereotypy, Tremor, Spastic tetraparesis, Seizure OMIM:619470
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Cerebellar atrophy, Rigidity, Dysmetria, Seizure, Tremor, Generalized myoclonic seizure OMIM:618090
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... OMIM:619279
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Waardenburg Syndrome, Type 3
Aganglionic megacolon OMIM:148820
Spongiform E