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 0.0%
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

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
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Albinism-Deafness Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Piebald skin depigmentation, Heterochrom... 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
Large clumps of pigment irregularly distributed along hair shaft, White eyelashes, Silver-gray hair OMIM:609227
Familial Isolated Café-Au-Lait Macules
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
Dowling-Degos Disease 3
Reticulated skin pigmentation, Hyperpigmented/hypopigmented macules OMIM:615674
Albinism-Deafness Syndrome
Piebald skin depigmentation, Albinism, Patchy hypo- and hyperpigmentation, Ocular albinism OMIM:300700
Waardenburg Syndrome, Type 4B
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi... 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
Long-segment aganglionic megacolon, Aganglionic megacolon, Total colonic aganglionosis OMIM:613711
Griscelli Syndrome, Type 1
Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Large... OMIM:214450
Neurodegeneration Due To Cerebral Folate Transport Deficiency
Neurodegeneration OMIM:613068
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Tietz Syndrome
White eyebrow, Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation o... ORPHA:42665
Piebald Trait
Piebald skin depigmentation, Heterochromia iridis, White forelock, Absent pigmentation of the ven... OMIM:172800
Nevus, Epidermal
Melanocytic nevus OMIM:162900
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
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism ORPHA:79478
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Piebald Trait-Neurologic Defects Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Aganglionic megacolon, Hypopigmentation ... ORPHA:2885
Dyschromatosis Universalis Hereditaria
Hypopigmented skin patches, Hypermelanotic macule, Multiple cafe-au-lait spots, Freckling, Spotty... 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
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Hypopigmentation of... ORPHA:895
Waardenburg Syndrome, Type 4A
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi... OMIM:277580
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Waardenburg Syndrome, Type 2F
Premature graying of hair, Hypermelanotic macule, Hypopigmentation of the skin, Heterochromia iri... OMIM:619947
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia of scalp, Onychogryposis of toenails, Dystrophic toenail, Hypopigmentation of the skin, ... OMIM:617294
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:606952
Piebald Trait With Neurologic Defects
White forelock, Ataxia, Absent pigmentation of the ventral chest OMIM:172850
Dowling-Degos Disease 2
Reticular hyperpigmentation, Hypomelanotic macule OMIM:615327
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Optic atrophy, Hypertonia, Hypopigmentation of hair, Spasticity, Tremo... ORPHA:33445
Oculocutaneous Albinism Type 3
Blue irides, Red hair, Hypopigmentation of the skin, Iris hypopigmentation, White eyelashes, Whit... ORPHA:79433
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus ORPHA:2435
Hirschsprung Disease, Susceptibility To, 1
Enterocolitis, Aganglionic megacolon, Abnormal enteric ganglion morphology OMIM:142623
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Deafness, Autosomal Dominant 75
Sensorineural hearing impairment, Abnormal cochlea morphology OMIM:618778
Deafness, Autosomal Dominant 87
Hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochlea type II OMIM:620281
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral atrophy, Abnormality of extrapyramidal motor function, Chorea, Spasticity, Seizure, Cere... OMIM:617672
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Hypopigmented skin patches, Multiple lentigines, Hypermelanotic macule, Cafe-au-lait spot, Progre... OMIM:145250
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation, Seizure, Infantile spasms, Epileptic spasm OMIM:212067
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Aganglionic megacolon OMIM:235750
Abcd Syndrome
Aganglionic megacolon, Total intestinal aganglionosis, Abnormal auditory evoked potentials, White... OMIM:600501
Piebaldism
Hypopigmented skin patches, Hypopigmentation of hair, Piebald skin depigmentation, Heterochromia ... ORPHA:2884
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
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Waardenburg-Shah Syndrome
Premature graying of hair, Intestinal obstruction, Aganglionic megacolon, Hypopigmentation of hai... ORPHA:897
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Oculocerebral Syndrome With Hypopigmentation
Hypopigmentation of the skin, Silver-gray hair OMIM:257800
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Partial albinism, Hypopigmentation of hair ORPHA:90023
Griscelli Syndrome, Type 2
Silver-gray hair, Melanin pigment aggregation in hair shafts, Spasticity, Seizure, Hypopigmentati... OMIM:607624
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, Heterochromia iridis, White eyelashes, White eyebrow, Blue irides OMIM:103500
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Patchy alopecia, Woolly hair, Trichodysplasia, Coarse hair ORPHA:1410
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Tremor, Decreased number of peripheral myelinated nerve fibers, Dysphagia, Clusters of axonal reg... OMIM:607734
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Absent eyelashes, Absent eyebro... OMIM:182815
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Cerebral atrophy, Hirsutism, Progressive spasticity, Cerebellar atrophy, Head titubation, Dystoni... ORPHA:527497
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis OMIM:612577
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Melanin pigment aggregation in hair shafts, Spasticity, Seizure, Hypopigmentati... OMIM:256710
Peroxisome Biogenesis Disorder 8B
Cerebellar atrophy, Gait ataxia, Corpus callosum atrophy, Rigidity, Ataxia, Dysphagia, Leukodystr... OMIM:614877
Thumb Deformity And Alopecia
Increased groin pigmentation with raindrop depigmentation, Alopecia OMIM:188150
Pili Bifurcati
Abnormality of hair texture, Abnormal hair morphology ORPHA:720
Roussy-Levy Hereditary Areflexic Dystasia
Hypertrophic nerve changes, Gait ataxia, Action tremor, Upper limb postural tremor, Decreased num... OMIM:180800
Appendicitis, Proneness To
Abnormal large intestine morphology OMIM:107700
Oculocutaneous Albinism Type 2
Blue irides, Iris transillumination defect, Hypopigmentation of hair, Hyperpigmented nevi, Hypopi... ORPHA:79432
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Intestinal pseudo-obstruction, Abnormal autonomic nervous system physiolog... OMIM:243180
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... OMIM:606482
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Cerebellar atrophy, Ataxia, Myoclonus, CNS hypomyelination, Leukodystrophy OMIM:616494
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy
Limb ataxia, Torticollis, Truncal ataxia, Spasticity, Cerebellar atrophy, Limb dystonia, Head tit... OMIM:617560
Monomelic Amyotrophy
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction ORPHA:65684
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Dystonia, Ataxia, Abno... OMIM:614561
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Nail dysplasia, Hypermelanotic macule, Nail dystrophy, Alopecia, Mixed hypo- and hyperpigmentatio... ORPHA:79397
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon OMIM:619465
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair, Ataxia, Intention tremor OMIM:190200
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:619165
Developmental And Epileptic Encephalopathy 14
Neuronal loss in central nervous system, Gliosis, Spasticity, Tetraplegia, Clonus, Cerebral corti... OMIM:614959
Waardenburg Syndrome, Type 3
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Heterochromia iridi... OMIM:148820
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Nail dysplasia, Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Hypop... OMIM:131960
Deafness, Autosomal Dominant 44
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:607453
Deafness, Autosomal Dominant 86
Abnormal inner ear morphology, Sensorineural hearing impairment, Abnormal vestibular function, Ti... OMIM:620280
Waardenburg Syndrome, Type 2A
Premature graying of hair, Numerous pigmented freckles, Heterochromia iridis, Synophrys, White fo... OMIM:193510
Albinism, Oculocutaneous, Type Iv
Albinism, Blue irides, Hypopigmentation of hair OMIM:606574
Autosomal Spastic Paraplegia Type 58
Cerebral atrophy, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Spastici... ORPHA:397946
Hereditary Methemoglobinemia
Hypertonia, Global brain atrophy, Abnormality of the nail, Frontal cortical atrophy, Spasticity, ... ORPHA:621
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Deafness, Autosomal Dominant 77
Abnormal inner ear morphology, Sensorineural hearing impairment, Tinnitus OMIM:618915
Pelizaeus-Merzbacher Disease
Global brain atrophy, Cerebral dysmyelination, Sudanophilic leukodystrophy, Abnormal CNS myelinat... OMIM:312080
Tremor, Hereditary Essential, 6
Cerebellar atrophy, Head tremor, Postural tremor, Kinetic tremor, Vocal tremor, Leukodystrophy OMIM:618866
Corpus Callosum, Partial Agenesis Of, X-Linked
Hydrocephalus, Aganglionic megacolon, High palate OMIM:304100
Waardenburg Syndrome Type 1
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of... ORPHA:894
Deafness, Autosomal Recessive 109
Congenital sensorineural hearing impairment, Abnormal semicircular canal morphology, Absent vesti... OMIM:618013
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Bradykinesia, Global brain atrophy, Apraxia, Neuronal loss in central nervous system, Gliosis, Sp... OMIM:221820
Waardenburg Syndrome, Type 4C
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Heterochromia iridi... OMIM:613266
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Babinski sign, Spasticity, Tremor, Cerebellar atrophy, Cerebral cortical atrophy, Dystonia, Ataxi... OMIM:607694
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
White forelock, Macular hyperpigmented dermopathy ORPHA:2779
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Pyknoachondrogenesis
Stillbirth OMIM:265880
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Ocular albinism, White hair, Albinism, Blue irides, Absent skin pigment... OMIM:203100
Neuroblastoma, Susceptibility To, 2
Aganglionic megacolon OMIM:613013
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia
Incoordination, Seizure, Fair hair, Gait ataxia OMIM:618808
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Babinski sign, Seizure, Spastic tetraparesis, Gait ataxia, CNS demyelination, Dysphagia, Peripher... OMIM:249900
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypopigmentation of the skin, Albinism, Blue irides, Freckles... OMIM:203200
Spinocerebellar Ataxia 17
Bradykinesia, Limb ataxia, Apraxia, Chorea, Gliosis, Neuronal loss in central nervous system, Cer... OMIM:607136
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism OMIM:300650
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Hyperpigmentation of the skin, Dystrophic toenail, Hypopigmentation of the skin, Abs... ORPHA:89838
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Alopecia of scalp, Abnormal hair morphology, Anonychia, Axillary and groin... ORPHA:69125
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Leukodystrophy, Hypomyelinating, 15
Cerebral atrophy, Spasticity, Athetosis, Cerebellar atrophy, Intention tremor, Dystonia, Ataxia, ... OMIM:617951
Krabbe Disease
Optic atrophy, Hypertonia, Decerebrate rigidity, Seizure, Progressive spasticity, Vomiting, CNS d... OMIM:245200
Stxbp1-Related Encephalopathy
Epileptic spasm, Generalized myoclonic seizure, Spasticity, Tremor, Focal motor seizure, Seizure,... ORPHA:599373
L1 Syndrome
Hydrocephalus, Aqueductal stenosis, Aganglionic megacolon ORPHA:275543
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Dystonia, Peripheral demyelination OMIM:250850
Amyotrophic Lateral Sclerosis 4, Juvenile
Decreased compound muscle action potential amplitude, Axonal degeneration, Pallor of dorsal colum... OMIM:602433
Waardenburg Syndrome
Premature graying of hair, Hypopigmented skin patches, Intestinal obstruction, Aganglionic megaco... ORPHA:3440
Charcot-Marie-Tooth Disease, Type 4A
Hypertrophic nerve changes, Axonal degeneration, Basal lamina onion bulb formation, Decreased num... OMIM:214400
Ermine Phenotype
White hair, White eyelashes, Vitiligo, Spotty hyperpigmentation, White eyebrow, Abnormal iris pig... OMIM:227010
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... ORPHA:170
Ceroid Lipofuscinosis, Neuronal, 7
Cerebral atrophy, Optic atrophy, Generalized myoclonic seizure, Cerebellar atrophy, Ataxia, Neuro... OMIM:610951
Developmental And Epileptic Encephalopathy 5
Cerebral atrophy, Gastroesophageal reflux, Atrophy/Degeneration affecting the brainstem, Cerebell... OMIM:613477
Huntington Disease
Bradykinesia, Chorea, Gliosis, Neuronal loss in central nervous system, Cerebellar atrophy, Gait ... OMIM:143100
Spinocerebellar Ataxia 38
Limb ataxia, Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem, Tremor, Per... OMIM:615957
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Onion bulb formation, Peripheral ... OMIM:620378
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Cerebellar vermis atrophy, Spasticity, Tremor, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxi... OMIM:614381
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Gait ataxia, Vocal cord paresis, Basal lamina onion bulb formation, Decreased number of periphera... OMIM:614895
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Leukodystrophy, Peripheral demyelination DECIPHER:59
Spinocerebellar Ataxia Type 43
Limb ataxia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Peripheral axonal neuropat... ORPHA:497764
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome
Brain atrophy, Tetraplegia, Cerebellar atrophy, Corpus callosum atrophy, Cerebral cortical atroph... ORPHA:369939
Hirschsprung Disease
Functional abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacol... ORPHA:388
Leukodystrophy, Hypomyelinating, 2
Demyelinating motor neuropathy, Babinski sign, Cerebral atrophy, Progressive spasticity, Intentio... OMIM:608804
Griscelli Syndrome Type 1
Premature graying of hair, Hypertonia, Seizure, White hair, Iris hypopigmentation, Ataxia, Partia... ORPHA:79476
Leukodystrophy, Hypomyelinating, 6
Oculomotor apraxia, Spasticity, Tremor, Cerebellar atrophy, Rigidity, Dystonia, Ataxia, Choreoath... OMIM:612438
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Focal-onset seizure, Abnormality of extrapyramidal motor function, Neuronal loss i... OMIM:615362
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin, Spotty hypo... ORPHA:79399
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:2786
Developmental And Epileptic Encephalopathy 54
Seizure, Tonic seizure, Bilateral tonic-clonic seizure, Delayed myelination, Atypical absence sei... OMIM:617391
Adducted Thumbs Syndrome
High, narrow palate, Cerebral dysmyelination, High palate, Myelin-dependent gliosis, Velopharynge... OMIM:201550
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Generalized myoclonic seizure, Sensory axonal neuropathy, Tremor, Atonic seizure, ... OMIM:612437
Tremor-Ataxia-Central Hypomyelination Syndrome
Babinski sign, Spastic dysarthria, Spasticity, Upper motor neuron dysfunction, Intention tremor, ... ORPHA:447896
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Peripheral axonal neuropathy, Spasticity, Tremor, Cer... OMIM:607317
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Null Syndrome
Optic atrophy, Demyelinating peripheral neuropathy, Peripheral demyelination, Ataxia, CNS hypomye... ORPHA:280234
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia
Cerebral atrophy, Highly arched eyebrow, Spasticity, Cerebellar atrophy, Synophrys, Long eyelashe... OMIM:619286
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Babinski sign, Frequent falls, Hand tremor, Onion bulb formation, Peripheral demyelination OMIM:618279
Hidrotic Ectodermal Dysplasia
Nail dystrophy, Slow-growing nails, Hypopigmentation of hair, Small nail, Absent pubic hair, Hype... ORPHA:189
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Axonal degeneration, Fasciculations, Gliosis, Tetraplegia, Decreased number of peripheral myelina... OMIM:604484
Phenylketonuria
Lower limb spasticity, Seizure, Tremor, Hypopigmentation of the skin, Ataxia ORPHA:716
Deafness, Dystonia, And Cerebral Hypomyelination
Cerebral atrophy, Tetraplegia, Cerebellar atrophy, Dystonia, Abnormal pyramidal sign, Cerebral hy... OMIM:300475
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Seizure, Cerebral cortical atrophy, Ataxia, Delayed CNS myelin... OMIM:300983
Neuromyelitis Optica Spectrum Disorder
Paraplegia, Neuronal loss in central nervous system, Peripheral demyelination, Nausea ORPHA:71211
Paraparetic Variant Of Guillain-Barré Syndrome
Peripheral axonal neuropathy, Peripheral demyelination, Paraparesis ORPHA:231445
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Hypertonia, Spasticity, Tremor, Decreased number of peripheral myel... OMIM:609260
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Seizure, Tremor, Ataxia OMIM:213000
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Cerebral atrophy, Babinski sign, Apraxia, Spasticity, Seizure, Myoclonus, Axonal loss, Peripheral... OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Segmental peripheral demyelination, Axonal degeneration/regeneration, Onion bulb formation, Segme... OMIM:606483
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Oculomotor apraxia, Spasticity, Dysdiadochokinesis, Cerebellar atr... OMIM:614487
Congenital Central Hypoventilation Syndrome
Aganglionic megacolon, Abnormality of the autonomic nervous system ORPHA:661
Kaya-Barakat-Masson Syndrome
Cerebral atrophy, Spasticity, Cerebellar atrophy, Limb dystonia, Spastic tetraplegia, CNS hypomye... OMIM:619125
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Gliosis, Athetosis, Dystonia, Dysphagia, Paralysis, Amyotrophic lateral sclerosis OMIM:300857
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Cerebellar atrophy, Head tremor, Action tremor, Upper limb postural tr... ORPHA:98769
Spastic Paraplegia 44, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Intention tremor, Spastic paraplegia, Upper l... OMIM:613206
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Epilepsy, Progressive Myoclonic 7
Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Myoclonic seizure, Ataxia, Myoclonus OMIM:616187
Dystonia 31
Abnormal posturing, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm dystonia, Generalize... OMIM:619565
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Neuronal loss in central nervous system, Gliosis, Abnormal lower motor neuron m... OMIM:105550
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Peripheral axonal neuropathy, Spasticity, Tremor, Ataxia OMIM:611105
Sandhoff Disease, Adult Form
Fasciculations, Sensory axonal neuropathy, Spasticity, Tremor, Gait ataxia, Focal dystonia, Dysto... ORPHA:309169
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Gliosis, Tremor, Spasticity, Cerebellar vermis atrophy, Gait ataxia,... OMIM:213200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Hypertrophic nerve changes, Gait ataxia, Ataxia, Onion bulb formation, Segmental peripheral demye... OMIM:601098
Juvenile Amyotrophic Lateral Sclerosis
Hypertonia, Oromandibular dystonia, Lower limb spasticity, Axial dystonia, Retrocollis, Chorea, C... ORPHA:300605
4H Leukodystrophy
Cerebral hypomyelination, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremo... ORPHA:289494
Spinocerebellar Ataxia 43
Limb ataxia, Cerebellar vermis atrophy, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
Hypertrophic Neuropathy Of Dejerine-Sottas
Hypertrophic nerve changes, Tongue fasciculations, Peripheral demyelination, Myelin tomacula, Dec... OMIM:145900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo... OMIM:118200
Giant Axonal Neuropathy
Babinski sign, Pili canaliculi, Spasticity, Woolly hair, CNS hypomyelination ORPHA:643
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Charcot-Marie-Tooth Disease, Type 4C
Axonal degeneration, Abnormal cranial nerve morphology, Tongue fasciculations, Facial palsy, Basa... OMIM:601596
Spinocerebellar Ataxia Type 25
Babinski sign, Spastic dysarthria, Progressive cerebellar ataxia, Gait ataxia, Vomiting, Diffuse ... ORPHA:101111
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Cerebral atrophy, Babinski sign, Peripheral hypomyelination, Axonal degeneration, Chorea, Ataxia,... OMIM:604168
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Optic atrophy, Babinski sign, Epilepsia partialis continua, Cerebellar cortical atrophy, Atrophy/... OMIM:271245
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Hypopigmented skin patches, Cerebral atrophy, Peripheral hypomyelination, Cerebral dysmyelination... OMIM:609136
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Ataxia, Peripheral demyelination, Axonal loss OMIM:616684
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I
Spastic gait, Babinski sign, Demyelinating peripheral neuropathy, Spasticity, Cerebellar atrophy,... OMIM:619742
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Peripheral axonal neuropathy, Facial palsy, Decreased number of peripheral myelinated nerve fiber... OMIM:118210
Bullous Dystrophy, Hereditary Macular Type
Death in childhood, Hyperpigmentation of the skin, Acrocyanosis OMIM:302000
Developmental And Epileptic Encephalopathy 79
Frontotemporal cerebral atrophy, CNS hypomyelination, Spasticity, Cerebral cortical atrophy OMIM:618559
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure, Gliosis OMIM:618328
Spinocerebellar Ataxia 37
Tremor, Cerebellar atrophy, Frequent falls, Ataxia, Dysphagia OMIM:615945
Primary Orthostatic Tremor
Abnormality of extrapyramidal motor function, Tremor ORPHA:238606
Pelizaeus-Merzbacher Disease, Transitional Form
CNS hypomyelination, Spastic tetraparesis ORPHA:280224
Hypomyelination-Congenital Cataract Syndrome
Abnormal pyramidal sign, Cerebral hypomyelination ORPHA:85163
Early-onset Alzheimer disease with cerebral amyloid angiopathy
Neurofibrillary tangles DECIPHER:48
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology, Decreased motor nerve conduction velocity DECIPHER:29
Spinocerebellar Ataxia, Autosomal Recessive 27
Torticollis, Gliosis, Spasticity, Cerebellar atrophy, Frequent falls, Gait ataxia, Cerebral corti... OMIM:618369
Encephalopathy, Progressive, With Or Without Lipodystrophy
Cerebral atrophy, Neuronal loss in central nervous system, Spasticity, Tremor, Seizure, Dystonia,... OMIM:615924
Alzheimer Disease 2
Neurofibrillary tangles OMIM:104310
Migraine, Familial Hemiplegic, 1
Seizure, Tremor, Cerebellar atrophy, Hemiparesis, Ataxia, Hemiplegia OMIM:141500
Subacute Inflammatory Demyelinating Polyneuropathy
Demyelinating motor neuropathy, Tremor, Symmetric peripheral demyelination, Diffuse peripheral de... ORPHA:206594
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Facial palsy, Decreased compound muscle action potential amp... OMIM:301830
Diaminopentanuria
Seizure, Spasticity, Neurodegeneration, Ataxia OMIM:222350
Lichtenstein-Knorr Syndrome
Limb ataxia, Cerebellar vermis atrophy, Dysdiadochokinesis, Cerebellar atrophy, Gait ataxia, Cafe... OMIM:616291
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Leukodystrophy, Hypomyelinating, 10
Cerebral atrophy, Babinski sign, Hyperkinetic movements, Spasticity, Cerebral cortical atrophy, C... OMIM:616420
Myoclonic-Atonic Epilepsy
Generalized non-motor (absence) seizure, Eyelid myoclonus, Tremor, Myoclonic seizure, Atonic seiz... OMIM:616421
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Aganglionic megacolon ORPHA:2151
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome
CNS hypomyelination, Ataxia ORPHA:88637
Deafness, Autosomal Dominant 80
Cochlear aplasia, Abnormal semicircular canal morphology, Dilated vestibule of the inner ear, Con... OMIM:619274
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Babinski sign, Axonal degeneration, Incoordination, Tremor, Cerebellar atrophy, Frequent falls, P... OMIM:302800
Lissencephaly Due To Tuba1A Mutation
Aganglionic megacolon, Optic nerve hypoplasia, Polymicrogyria, Agyria, Perisylvian polymicrogyria... ORPHA:171680
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Generalized myoclonic seizure, Focal-onset seizure, Oculogyric crisis, Seizure, Tr... ORPHA:330050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Onion bulb fo... OMIM:118220
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Impaired oropharyngeal swallow response, Acute demyelinating polyneuropathy, Onion bulb formation ORPHA:98916
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Chronic axonal neuropathy, Decreased number of small peripheral myelinated nerve fibers, Frequent... ORPHA:101097
Developmental And Epileptic Encephalopathy 78
CNS hypomyelination, Spasticity, Cerebral palsy, Chorea OMIM:618557
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Hypertonia, Decreased number of peripheral myelinated nerve fibers, Clumsiness, Tetraparesis, Slu... ORPHA:2386
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Degeneration of anterior horn cells, Facial palsy OMIM:159950
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin, Onychogryposis of fingernail, Ridged f... ORPHA:2251
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Brain atrophy, Amyotrophic lateral sclerosis, Cranial nerve com... ORPHA:52430
Spastic Paraplegia 55, Autosomal Recessive
Optic atrophy, Babinski sign, Lower limb spasticity, Peripheral axonal neuropathy, Knee clonus, S... OMIM:615035
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Hypertonia, Chorea, Spastic tetraparesis, Cerebellar atrophy, De... ORPHA:79097
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
Sporadic Creutzfeldt-Jakob Disease
Cerebral atrophy, Babinski sign, Abnormality of extrapyramidal motor function, Neuronal loss in c... ORPHA:204
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy
Lower limb spasticity, Intention tremor, Progressive extrapyramidal movement disorder, Lower limb... ORPHA:438114
Diaphragmatic Hernia 5, X-Linked
Neonatal death OMIM:306950
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence OMIM:300717
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Babinski sign, Pontocerebellar atrophy, Oculomotor apraxia, Lower limb spasticity,... ORPHA:171629
Epidermolysis Bullosa Acquisita
Inflammation of the large intestine, Nail dystrophy, Abnormal hair morphology, Hyperpigmentation ... ORPHA:46487
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Global brain atrophy, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abno... ORPHA:275872
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Axonal regeneration, Onion bulb formation, Peripheral demyelination OMIM:615185
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Bradykinesia, Babinski sign, Cerebral atrophy, Apraxia, Spasticity, Seizure, Cerebellar atrophy, ... OMIM:300423
Spinocerebellar Ataxia, Autosomal Recessive 3
Hearing impairment, Cochlear degeneration OMIM:271250
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal deg... OMIM:607706
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration
Optic atrophy, Babinski sign, Lower limb spasticity, Atrophy/Degeneration affecting the brainstem... OMIM:612319
Generalized Epilepsy With Febrile Seizures-Plus
Bradykinesia, Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Focal-onset... ORPHA:36387
Primary Dystonia, Dyt27 Type
Oromandibular dystonia, Writer's cramp, Axial dystonia, Limb dystonia, Action tremor, Focal dysto... ORPHA:464440
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination OMIM:607791
Pelizaeus-Merzbacher disease
Abnormal CNS myelination, Leukodystrophy DECIPHER:38
Leukodystrophy, Hypomyelinating, 5
Babinski sign, Truncal titubation, Intention tremor, Abnormal pyramidal sign, CNS hypomyelination... OMIM:610532
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Aganglionic megacolon, Abnormal autonomic nervous system physiology OMIM:613870
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Fasciculations, Dystrophic toenail, Decreased number of peripheral myelinated nerve fibers, Axona... OMIM:600882
L-2-Hydroxyglutaric Aciduria
Global brain atrophy, Abnormality of extrapyramidal motor function, Gliosis, Spastic tetraparesis... OMIM:236792
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Bilateral tonic-clonic seizure, Dystonia, At... OMIM:618425
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Cerebral atrophy, Abnormality of extrapyramidal motor function, Neuronal loss in central nervous ... OMIM:604218
Autosomal Recessive Spastic Paraplegia Type 71
Abnormal myelination ORPHA:401840
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Generalized non-motor (absence) seizure, Generalized myoclonic seizure, Seizure, Tremor, Bilatera... OMIM:617831
Classic Phenylketonuria
Hypertonia, Hypopigmentation of hair, Paraplegia, Seizure, Tremor, Hypopigmentation of the skin, ... ORPHA:79254
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Small nail, Spastic tetraparesis, Delayed myelination, Cleft palate, Myoclonus,... OMIM:614261
Developmental And Epileptic Encephalopathy 4
Cerebral atrophy, Tremor, Spastic paraplegia, Delayed CNS myelination, Spastic tetraplegia, Chore... OMIM:612164
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Cerebral atrophy, Peripheral axonal neuropathy, Seizure, Cerebellar atrophy, Ataxia, Decreased nu... OMIM:607250
Leukoencephalopathy With Vanishing White Matter 1
CNS demyelination, Gliosis, Spasticity, Cerebral hypomyelination OMIM:603896
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Seizure, Tremor, Frequent falls OMIM:616921
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Distichiasis, Sparse lateral eyebrow, Low anterior hairline, Spotty hyperpigmen... ORPHA:79133
Spinocerebellar Ataxia Type 31
Spasticity, Tremor, Cerebellar atrophy, Gait ataxia ORPHA:217012
Pontocerebellar Hypoplasia, Type 4
Hypertonia, Gliosis, Spasticity, Dysphagia, Myoclonus OMIM:225753
Bresek Syndrome
Optic nerve hypoplasia, Aganglionic megacolon, Cleft palate, Neonatal death ORPHA:85284
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy
Spastic paraplegia, CNS hypomyelination, Ataxia OMIM:619688
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Neuronal loss in central nervous system, Tremor, Cerebellar atrophy, ... OMIM:610245
Leigh Syndrome
Gliosis, Spasticity, CNS demyelination, Dystonia, Ataxia, Hypertrichosis, Pigmentary retinopathy OMIM:256000
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:611722
Alopecia Totalis
Alopecia of scalp, Onycholysis, Fragile nails, Nail pits, Trachyonychia, Vitiligo, Inflammation o... ORPHA:700
Dystonia 27
Oromandibular dystonia, Torticollis, Writer's cramp, Limb dystonia, Action tremor, Postural tremo... OMIM:616411
Vogt-Koyanagi-Harada Disease
Hypopigmented skin patches, Premature graying of hair, Abnormal eyelash morphology, Sparse scalp ... ORPHA:3437
Developmental And Epileptic Encephalopathy 86
CNS hypomyelination, Dystonia OMIM:618910
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Tremor, Heterochromia iridis ORPHA:66633
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Cochlear aplasia, Abnormal vestibular function, Congenital sensorineural hearing impairment OMIM:619553
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Axonal degeneration/regeneration, Dysphagia, Peripheral demyelination OMIM:607736
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2
CNS hypomyelination, Enterocolitis OMIM:620425
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-clonic sei... OMIM:618587
Secondary Short Bowel Syndrome
Steatorrhea, Aganglionic megacolon, Small intestinal dysmotility, Enterocolitis, Volvulus, Abnorm... ORPHA:95427
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Oculocutaneous Albinism Type 4
Hypopigmentation of hair, White hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnorm... ORPHA:79435
Combined Oxidative Phosphorylation Deficiency 24
Neuronal loss in central nervous system, Gliosis, Spasticity, Cerebellar atrophy, CNS hypomyelina... OMIM:616239
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination OMIM:311070
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Lower limb spasticity, Tongue fasciculations, Gliosis, Atrophy/Degeneration affecting the brainst... OMIM:617193
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:616081
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hypertonia, High palate, Rigidity, CNS hypomyelination, Choreoathetosis OMIM:620023
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity
Babinski sign, Lower limb spasticity, Ataxia, CNS hypomyelination, Spastic diplegia OMIM:615281
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy
Cerebral atrophy, Babinski sign, Spasticity, Cerebellar atrophy, Delayed CNS myelination, Pigment... OMIM:619090
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Generalized hyperpigmentation, Hypopigmentation of hair ORPHA:1355
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Cerebral atrophy, Brain atrophy, Cerebellar atrophy, Synophrys, Ataxia, Delayed CNS myelination, ... OMIM:619260
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Generalized hypopigmentation, Spotty hyperpigmentation... ORPHA:158681
Microcephaly 10, Primary, Autosomal Recessive
Cerebral atrophy, Hypertonia, Gliosis, Spasticity, Cerebellar atrophy, Delayed CNS myelination OMIM:615095
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay
Tremor, Bilateral tonic-clonic seizure, Myoclonus, Focal sensory seizure with visual features, Fo... OMIM:615400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Generalized myoclonic seizure, Typical absence seizure, Myoclonic status epilep... ORPHA:2590
Waardenburg Syndrome, Type 2E
Premature graying of hair, Hypopigmented skin patches, Hypertonia, Heterochromia iridis, White fo... OMIM:611584
Spasticity, Childhood-Onset, With Hyperglycinemia
Babinski sign, Spasticity, Spastic ataxia, Abnormal pyramidal sign, Leukodystrophy, Spastic diplegia OMIM:616859
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Abnormal cranial nerve morphology, Peripheral hypomyelination, Onion bulb formation OMIM:605253
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607677
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation OMIM:616039
Infantile Neuronal Ceroid Lipofuscinosis
Cerebral atrophy, Chorea, Spasticity, Tremor, Poor fine motor coordination, Cerebellar atrophy, B... ORPHA:79263
Hypotrichosis 8
Coarse hair, Ridged nail, Sparse scalp hair, Woolly hair, Sparse eyelashes, Nail pits, Sparse eye... OMIM:278150
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Cerebellar atrophy, Gait ataxia, Inten... ORPHA:101110
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Seizure, Hypopigmentation of the skin, Iris hypopigmentation, Ataxia ORPHA:411515
Combined Saposin Deficiency
Babinski sign, Hyperkinetic movements, Fasciculations, Neuronal loss in central nervous system, C... OMIM:611721
X-Linked Lissencephaly With Abnormal Genitalia
Aganglionic megacolon, Pachygyria, Death in infancy ORPHA:452
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Cerebral cortical atrophy, Degeneration of anterior horn cells ORPHA:2254
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers OMIM:607731
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Peripheral demyelination, Onion bulb formation, Decreased number of large peripheral myelinated n... OMIM:608340
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Pelizaeus-Merzbacher Disease, Classic Form
Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic tetraparesis, Tituba... ORPHA:280219
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Tremor, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Spinocerebellar Ataxia 18
Babinski sign, Sensory axonal neuropathy, Dysdiadochokinesis, Tremor, Cerebellar atrophy, Progres... OMIM:607458
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Abnormal seventh cranial physiology, Tremor, ... ORPHA:90117
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Babinski sign, Spasticity, Symmetric peripheral demyelination, Bowel incontinence, Corpus callosu... OMIM:169500
Multiple Mitochondrial Dysfunctions Syndrome 5
Delayed myelination, Spasticity, Leukodystrophy, Pigmentary retinopathy OMIM:617613
Optic Atrophy 3, Autosomal Dominant
Abnormality of extrapyramidal motor function, Optic atrophy, Tremor, Optic disc pallor OMIM:165300
Amyotrophic Lateral Sclerosis 21
Abnormal upper motor neuron morphology, Decreased nerve conduction velocity, Amyotrophic lateral ... OMIM:606070
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... OMIM:105400
Deafness, Autosomal Dominant 9
Postlingual sensorineural hearing impairment, Cochlear degeneration, Tinnitus, Vertigo OMIM:601369
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Ddost-Cdg
CNS hypomyelination, Tremor, Gastroesophageal reflux, Oromotor apraxia ORPHA:300536
Leukodystrophy, Hypomyelinating, 22
CNS hypomyelination, Babinski sign, Lower limb hypertonia, Upper limb hypertonia OMIM:619328
Spinocerebellar Ataxia 40
Pontocerebellar atrophy, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Ankle... OMIM:616053
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities
Hypertonia, Gastroesophageal reflux, Spasticity, Delayed CNS myelination, CNS hypomyelination OMIM:616577
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers OMIM:608673
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Hippocampal atrophy, Amyotrophic lateral sclerosis, Caudate atrophy OMIM:617892
Nemaline Myopathy 8
Respiratory failure, Facial palsy, Death in infancy OMIM:615348
Neuropathy, Hereditary Motor And Sensory, Russe Type
Paralysis, Peripheral hypomyelination, Axonal regeneration, Decreased number of large peripheral ... OMIM:605285
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Babinski sign, Hypertonia, Limb hypertonia, Neuronal loss in central nervous system, Gliosis, Myo... OMIM:614498
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
Haddad Syndrome
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Gastroesophageal reflux ORPHA:99803
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy
Cerebral atrophy, CNS hypomyelination, High palate, Cerebellar vermis atrophy OMIM:615760
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches, Achalasia ORPHA:3239
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:616437
Neurodegeneration With Brain Iron Accumulation 7
Cerebral atrophy, Lower limb spasticity, Tremor, Cerebellar atrophy, Dystonia, Ataxia, Dysphagia,... OMIM:617916
Huntington Disease-Like 1
Bradykinesia, Chorea, Gliosis, Incoordination, Poor fine motor coordination, Cerebellar atrophy, ... ORPHA:157941
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Lethal Congenital Contracture Syndrome 8
Peripheral hypomyelination, Facial diplegia, Vocal cord paralysis, Oral-pharyngeal dysphagia OMIM:616287
Developmental And Epileptic Encephalopathy 29
Cerebral atrophy, Chorea, Spasticity, Blepharospasm, Limb dystonia, CNS hypomyelination OMIM:616339
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Charcot-Marie-Tooth Disease, Type 4J
Peripheral hypomyelination, Onion bulb formation, Frequent falls, Axonal loss OMIM:611228
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
CNS hypomyelination, High palate, Myoclonus, Delayed CNS myelination OMIM:616158
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Seizure, Tremor, Clonus, Spastic paraplegia, ... OMIM:600363
Rapid-Onset Dystonia-Parkinsonism
Bradykinesia, Torticollis, Resting tremor, Seizure, Craniofacial dystonia, Cerebellar atrophy, Li... ORPHA:71517
Charcot-Marie-Tooth Disease, Type 4H
Peripheral hypomyelination, Onion bulb formation, Decreased number of peripheral myelinated nerve... OMIM:609311
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Seizure, Ataxia, Abnormal pyram... ORPHA:79262
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory insufficiency, Respiratory failure, Death in infancy OMIM:613869
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Spinocerebellar Ataxia Type 38
Tremor, Cerebellar atrophy, Gait ataxia ORPHA:423296
Adenylosuccinase Deficiency
Cerebral atrophy, Spasticity, Cerebellar atrophy, Hemiplegia, Gait ataxia, Opisthotonus, Myoclonu... OMIM:103050
Multiple Mitochondrial Dysfunctions Syndrome 4
Spasticity, Leukodystrophy OMIM:616370
Woolly Hair Nevus
Woolly scalp hair, Heterochromia iridis, Curly hair, Congenital posterior occipital alopecia, Pat... ORPHA:79414
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Rhombencephalosynapsis
Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Anal atresia, Septo-optic dysplasia, Tr... ORPHA:59315
Spastic Paraplegia 11, Autosomal Recessive
Spastic gait, Babinski sign, Lower limb spasticity, Knee clonus, Spastic paraplegia, Cerebral cor... OMIM:604360
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Sensory axonal neuropathy, Babinski sign, Motor axonal neuropathy, Decreased number of peripheral... OMIM:620542
Developmental And Epileptic Encephalopathy 75
Babinski sign, Frontal cortical atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination OMIM:618437
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Narrow palate, High, narrow palate, Spasticity, Frontal hirsutism, Generalized hirsutism, Myoclon... OMIM:612949
Developmental And Epileptic Encephalopathy 93
Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy, Spastic tetraparesis OMIM:618012
Spastic Ataxia 2, Autosomal Recessive
Cerebral atrophy, Babinski sign, Torticollis, Fasciculations, Spasticity, Tremor, Cerebellar atro... OMIM:611302
Glycosylphosphatidylinositol Biosynthesis Defect 15
Generalized non-motor (absence) seizure, Optic atrophy, Apraxia, Spasticity, Tremor, Cerebellar a... OMIM:617810
Neuropathy, Congenital Hypomyelinating, 3
Narrow palate, Babinski sign, Gastroesophageal reflux, Spasticity, Cerebellar atrophy, High palat... OMIM:618186
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
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
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Episodic vomiting, Seizure, Tremor, Bilateral tonic-clonic sei... OMIM:612736
Metachromatic Leukodystrophy
Optic atrophy, Babinski sign, Chorea, Tetraplegia, Seizure, Dystonia, Ataxia, Spastic tetraplegia... OMIM:250100
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:614072
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Generalized hypopigmentation, Abnormal eyebrow morphology, Generaliz... ORPHA:1816
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... ORPHA:216873
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies
Hypertonia, Highly arched eyebrow, Lumbar hypertrichosis, Bifid uvula, Low anterior hairline, CNS... OMIM:618622
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia
Dystonia, Leukodystrophy OMIM:616763
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy
Abnormal pyramidal sign, Dystonia, Ataxia, Leukodystrophy OMIM:619196
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Rectovaginal fistula, Cerebellar atrophy, Intention tremor, Inflammation of the large intestine, ... OMIM:619708
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate, Pachygyria ORPHA:66629
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation, Abnormality of ret... ORPHA:79434
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Neonatal death, Respiratory insufficiency due to muscle weakness, Dystonia, Resp... OMIM:611890
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Colitis, Hypopigmentation of the skin, Inflammation of the large intest... OMIM:203300
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Cerebellar atrophy, Bilateral tonic-clonic seizure, Gait ataxia, D... OMIM:618093
Deafness, X-Linked 2
Mixed hearing impairment, Conductive hearing impairment, Congenital sensorineural hearing impairm... OMIM:304400
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Incoordination, Cerebellar atrophy, Gait apraxia, Gait ataxia, Ataxia, Dysphagia, Babinski sign, ... OMIM:615157
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Axonal degeneration/regeneration, Peripheral axonal atrophy, Onion bulb formation, Decreased numb... OMIM:605588
Adult Krabbe Disease
Hoffmann sign, Babinski sign, Spasticity, Upper motor neuron dysfunction, Frequent falls, CNS dem... ORPHA:206448
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon ORPHA:261222
Beta-Propeller Protein-Associated Neurodegeneration
Bradykinesia, Cerebral atrophy, Optic atrophy, Seizure, Tremor, Cerebellar atrophy, Rigidity, Dys... ORPHA:329284
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Bone spicule pigmentation of the retina, Peripheral demyelination, Ataxia, Achalas... OMIM:609033
Alzheimer Disease, Familial, 1
Neurofibrillary tangles OMIM:104300
Hereditary Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Global brain atrophy, Broad eyebrow, Limb hypertonia, Spasticity, High palate, Ataxia, CNS hypomy... ORPHA:481152
Charcot-Marie-Tooth Disease, Type 4B2
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Segmental periphera... OMIM:604563
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Cerebrooculofacioskeletal Syndrome 1
Brain atrophy, Gliosis, Hirsutism, Cerebellar atrophy, Delayed myelination, CNS demyelination, Di... OMIM:214150
Spinocerebellar Ataxia Type 37
Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cerebellar vermis atrophy, Cogwheel rigidi... 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
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Cerebral atrophy, Hypertonia, Cerebellar vermis atrophy, Spasticity, Tremor, Cerebe... OMIM:617435
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Cerebellar atrophy, Head tremo... OMIM:604326
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Tremor, Bilateral tonic-clonic seizure OMIM:601068
Spinocerebellar Ataxia Type 12
Bradykinesia, Cerebral atrophy, Tremor by anatomical site, Poor fine motor coordination, Cerebell... ORPHA:98762
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Spasticity, Cerebellar atrophy, Cerebral cortical atrophy, Ataxia, Dysphagia, CNS hypomyelination... OMIM:619576
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology
Neurofibrillary tangles OMIM:605055
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Hypopigmentation of... ORPHA:163746
Congenital Neuronal Ceroid Lipofuscinosis
Abnormal astrocyte morphology, Spasticity, Gliosis, Cerebellar atrophy, Diffuse demyelination of ... ORPHA:168486
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Bradykinesia, Babinski sign, Cerebral atrophy, Oromandibular dystonia, Scissor gait, Spasticity, ... ORPHA:521406
Dysautonomia-Like Disorder