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Gene: Sox10 MGI:98358

Gene Summary

Name:

SRY (sex determining region Y)-box 10

Synonyms:

Sox21, gt

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

No results meet the p-value threshold

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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	N/A	heterozygote	100% (2 of 2)
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	100% (2 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)
Cerebellum	N/A	heterozygote	100% (2 of 2)
Cerebral cortex	N/A	heterozygote	100% (2 of 2)
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)
Hippocampus	N/A	heterozygote	100% (2 of 2)
Hypothalamus	N/A	heterozygote	100% (2 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)
Olfactory lobe	N/A	heterozygote	100% (2 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)
Peripheral nervous system	N/A	heterozygote	100% (2 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	Not available
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	100% (2 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	100% (2 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	100% (2 of 2)
Testis	N/A	heterozygote	50% (1 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	100% (2 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Trigeminal V nerve	N/A	heterozygote	100% (2 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vas deferens	N/A	heterozygote	Not available
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

11 Images

View images

Human diseases caused by Sox10 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Sox10 (7 diseases)
Human diseases predicted to be associated with Sox10 (1446 diseases)

The table below shows human diseases associated to Sox10 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	ORPHA:895
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:613266
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Ataxia, Spasticity, Spastic paraparesis, Hypopigmented skin patches, Seizure, Cerebral atrophy, P...	OMIM:609136
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Wh...	OMIM:611584
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, I...	ORPHA:163746
Kallmann Syndrome	Seizure, Breast hypoplasia, Paraplegia, Tremor, Ataxia	ORPHA:478

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

Disease	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	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Linear Atrophoderma Of Moulin	Linear hyperpigmentation	ORPHA:140933
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules, Reticulated skin pigmentation	OMIM:615674
Albinism-Deafness Syndrome	Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism	OMIM:300700
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:613265
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Hirschsprung Disease, Susceptibility To, 3	Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon	OMIM:613711
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Tietz Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, White eyebrow, Abnormality of skin pigmen...	ORPHA:42665
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Nevus, Epidermal	Melanocytic nevus	OMIM:162900
Deafness, Autosomal Dominant 85	Cochlear nerve hypoplasia, Sensorineural hearing impairment	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	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Aganglionosis, Total Intestinal	Total intestinal aganglionosis	OMIM:202550
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Dyschromatosis Universalis Hereditaria	Hypopigmented skin patches, Spotty hypopigmentation, Multiple cafe-au-lait spots, Freckling, Hype...	ORPHA:241
Hirschsprung Disease, Susceptibility To, 2	Aganglionic megacolon	OMIM:600155
Hirschsprung Disease, Susceptibility To, 5	Aganglionic megacolon	OMIM:600156
Hirschsprung Disease, Susceptibility To, 4	Aganglionic megacolon	OMIM:613712
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	ORPHA:895
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:277580
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	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, Hypopigmentation of the skin, Dystrophic toenail, Sparse body hair, Onychogryposis of t...	OMIM:617294
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Ataxia	OMIM:172850
Dowling-Degos Disease 2	Reticular hyperpigmentation, Hypomelanotic macule	OMIM:615327
Neuroectodermal Melanolysosomal Disease	Optic atrophy, Spasticity, Hypopigmentation of the skin, Cerebral cortical atrophy, Seizure, Prem...	ORPHA:33445
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Melanocytic nevus, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2435
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Abnormal enteric ganglion morphology, Enterocolitis	OMIM:142623
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Deafness, Autosomal Dominant 75	Abnormal cochlea morphology, Sensorineural hearing impairment	OMIM:618778
Deafness, Autosomal Dominant 87	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Hearing impairment	OMIM:620281
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Neurodegene...	OMIM:617672
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Congenital Disorder Of Glycosylation, Type I/Iix	Epileptic spasm, Infantile spasms, Seizure, Abnormality of skin pigmentation	OMIM:212067
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon	OMIM:235750
Abcd Syndrome	Abnormal auditory evoked potentials, Aganglionic megacolon, White eyebrow, White eyelashes, Albin...	OMIM:600501
Piebaldism	Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,...	ORPHA:2884
X-Linked Complicated Corpus Callosum Dysgenesis	Aganglionic megacolon	ORPHA:1497
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Mottled pigmentation, Sparse eyebrow, Sparse eyelashes, Absent eyebrow, Sparse scalp hair	OMIM:620199
Anonychia With Flexural Pigmentation	Anonychia, Axillary and groin hyperpigmentation and hypopigmentation	OMIM:106750
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Anal atresia	OMIM:235760
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Griscelli Syndrome, Type 2	Silver-gray hair, Spasticity, Hypopigmentation of the skin, Seizure, Melanin pigment aggregation ...	OMIM:607624
Tietz Albinism-Deafness Syndrome	Heterochromia iridis, White eyebrow, White eyelashes, Generalized hypopigmentation, Blue irides	OMIM:103500
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hyperpigmentation of the skin, Hypopigmented skin patches	ORPHA:2819
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Tremor, Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, ...	OMIM:607734
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon	OMIM:235740
Spastic Paraplegia With Neuropathy And Poikiloderma	Spastic paraplegia, Demyelinating sensory neuropathy, Absent eyelashes, Absent eyebrow, Demyelina...	OMIM:182815
Hirschsprung Disease-Type D Brachydactyly Syndrome	Aganglionic megacolon	ORPHA:2150
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Hirsutism, Abnormal py...	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, Spasticity, Hypopigmentation of the skin, Seizure, Melanin pigment aggregation ...	OMIM:256710
Peroxisome Biogenesis Disorder 8B	Spasticity, Spastic paraparesis, Leukodystrophy, Peripheral demyelination, Clonus, Ataxia, Dyspha...	OMIM:614877
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Roussy-Levy Hereditary Areflexic Dystasia	Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Decreased num...	OMIM:180800
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic megacolon...	OMIM:243180
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de...	OMIM:606482
Leukodystrophy, Hypomyelinating, 11	Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Myoclonus, Tremor, Ataxia	OMIM:616494
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Limb ataxia, Limb dystonia, ...	OMIM:617560
Monomelic Amyotrophy	Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells	ORPHA:65684
Leukoencephalopathy, Brain Calcifications, And Cysts	Spasticity, Leukodystrophy, Seizure, Hemiplegia, Tremor, Abnormality of extrapyramidal motor func...	OMIM:614561
Albinism, Oculocutaneous, Type V	Albinism	OMIM:615312
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Mottled pigmentation, Hypermelanotic macule, Nail dystrophy, Hypomelanotic macule, Spot...	ORPHA:79397
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Short-segment aganglionic megacolon	OMIM:619465
Tremor Of Intention, Ataxia, And Lipofuscinosis	Ataxia, Intention tremor, Premature graying of hair	OMIM:190200
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Developmental And Epileptic Encephalopathy 14	Cerebral cortical atrophy, Spasticity, Delayed CNS myelination, Clonus, Tetraplegia, Gliosis, Neu...	OMIM:614959
Waardenburg Syndrome, Type 3	Hypopigmented skin patches, Premature graying of hair, Partial albinism, White forelock, Heteroch...	OMIM:148820
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Mottled pigmentation of the trunk and proximal extremities, Nail dystrophy, Discrete 2 to 5-mm hy...	OMIM:131960
Deafness, Autosomal Dominant 44	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:607453
Deafness, Autosomal Dominant 86	Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa...	OMIM:620280
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Autosomal Spastic Paraplegia Type 58	Spasticity, Cerebellar atrophy, Cerebral atrophy, Frequent falls, Fasciculations, Peripheral demy...	ORPHA:397946
Hereditary Methemoglobinemia	Spasticity, Spastic tetraplegia, Temporal cortical atrophy, Global brain atrophy, Cerebellar atro...	ORPHA:621
Optic Atrophy 2	Optic atrophy, Dysdiadochokinesis, Tremor, Babinski sign	OMIM:311050
Deafness, Autosomal Dominant 77	Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment	OMIM:618915
Pelizaeus-Merzbacher Disease	Spastic paraplegia, Global brain atrophy, CNS hypomyelination, Generalized dystonia, Sudanophilic...	OMIM:312080
Tremor, Hereditary Essential, 6	Cerebellar atrophy, Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor	OMIM:618866
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, High palate, Hydrocephalus	OMIM:304100
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic...	ORPHA:894
Deafness, Autosomal Recessive 109	Congenital sensorineural hearing impairment, Absent vestibular function, Abnormal semicircular ca...	OMIM:618013
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Spasticity, Global brain atrophy, Rigidity, Parkinsonism, Apraxia, CNS demyelination, Gliosis, Ne...	OMIM:221820
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:613266
Albinism, Oculocutaneous, Type Vi	Fair hair, Generalized hypopigmentation	OMIM:113750
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebral cortical atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, P...	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	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Neuroblastoma, Susceptibility To, 2	Aganglionic megacolon	OMIM:613013
Waardenburg Syndrome, Type 2B	Heterochromia iridis, White forelock, Premature graying of hair	OMIM:600193
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Incoordination, Gait ataxia, Fair hair, Seizure	OMIM:618808
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Seizure, Peripheral demyelination, Gait ataxia, Babinski sign, CNS demyelination, Spastic tetrapa...	OMIM:249900
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Spinocerebellar Ataxia 17	Cerebellar atrophy, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Dystonia, D...	OMIM:607136
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Albinism, Giant melanosomes in melanocytes	OMIM:300650
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Hypopigmentation of the skin, Dystrophic toenail, Abnormal fingernail morphology, Ridged nail, Ab...	ORPHA:89838
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Abnormal hair morphology, Alopecia of ...	ORPHA:69125
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
Leukodystrophy, Hypomyelinating, 15	Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Abnormal p...	OMIM:617951
Krabbe Disease	Optic atrophy, Vomiting, Seizure, Neurodegeneration, Peripheral demyelination, Diffuse cerebral a...	OMIM:245200
Stxbp1-Related Encephalopathy	Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Seiz...	ORPHA:599373
L1 Syndrome	Aganglionic megacolon, Aqueductal stenosis, Hydrocephalus	ORPHA:275543
Methionine Adenosyltransferase I/Iii Deficiency	Dystonia, Peripheral demyelination, CNS demyelination	OMIM:250850
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic lateral sclerosis, Decreased compound muscle action potential amplitude, Axonal degen...	OMIM:602433
Waardenburg Syndrome	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, White foreloc...	ORPHA:3440
Charcot-Marie-Tooth Disease, Type 4A	Hypertrophic nerve changes, Basal lamina onion bulb formation, CNS hypomyelination, Axonal degene...	OMIM:214400
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Ceroid Lipofuscinosis, Neuronal, 7	Optic atrophy, Pigmentary retinopathy, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, A...	OMIM:610951
Developmental And Epileptic Encephalopathy 5	Cerebral cortical atrophy, Gastroesophageal reflux, CNS hypomyelination, Cerebellar atrophy, Cere...	OMIM:613477
Huntington Disease	Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central nervous syst...	OMIM:143100
Spinocerebellar Ataxia 38	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropa...	OMIM:615957
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Onion bulb formation, Peripheral axonal neuropathy, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Episodic Ataxia, Type 1	Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech	OMIM:160120
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebellar vermis atrophy, G...	OMIM:614381
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Vocal cord paresis, Basal lamina onion bulb formation, Peripheral demyelination, Gait ataxia, Dec...	OMIM:614895
Adult-onset autosomal dominant leukodystrophy (ADLD)	Peripheral demyelination, Abnormal pyramidal sign, Leukodystrophy	DECIPHER:59
Spinocerebellar Ataxia Type 43	Cerebellar vermis atrophy, Limb ataxia, Cogwheel rigidity, Gait ataxia, Peripheral axonal neuropa...	ORPHA:497764
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral hypomyelination, Abn...	ORPHA:369939
Hirschsprung Disease	Aganglionic megacolon, Functional abnormality of the gastrointestinal tract, Intestinal polyposis...	ORPHA:388
Leukodystrophy, Hypomyelinating, 2	Spastic paraparesis, Leukodystrophy, Cerebral atrophy, Intention tremor, Rigidity, Babinski sign,...	OMIM:608804
Griscelli Syndrome Type 1	Iris hypopigmentation, White hair, Premature graying of hair, Partial albinism, Seizure, Hyperton...	ORPHA:79476
Leukodystrophy, Hypomyelinating, 6	Spasticity, Cerebellar atrophy, Leukodystrophy, Tremor, Rigidity, Cerebral hypomyelination, Oculo...	OMIM:612438
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Gait ataxia, Myoclonus, Tremor, Abnormali...	OMIM:615362
Developmental And Epileptic Encephalopathy 54	Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral...	OMIM:617391
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Spotty hyperpigmentation, Nail dystrophy, Hypomelanotic macule, Mixed hypo- and hyperpigmentation...	ORPHA:79399
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Adducted Thumbs Syndrome	High, narrow palate, Velopharyngeal insufficiency, Hypertrichosis, Myelin-dependent gliosis, Clef...	OMIM:201550
Epilepsy, Progressive Myoclonic, 1B	Sensory axonal neuropathy, Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, G...	OMIM:612437
Tremor-Ataxia-Central Hypomyelination Syndrome	Cerebral cortical atrophy, Spasticity, CNS hypomyelination, Leukodystrophy, Postural tremor, Dysm...	ORPHA:447896
Yemenite Deaf-Blind Hypopigmentation Syndrome	White forelock, Numerous pigmented freckles, Patchy hypo- and hyperpigmentation	OMIM:601706
Spinocerebellar Ataxia, Autosomal Recessive 4	Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Myoclonus, Gait ataxia, Tremor, Peripher...	OMIM:607317
Null Syndrome	Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Peripheral demyelination, Pro...	ORPHA:280234
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Highly arched eyebrow, Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Lon...	OMIM:619286
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Hand tremor, Peripheral demyelination, Babinski sign, Frequent falls, Onion bulb formation	OMIM:618279
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Hand tremor, Fasciculations, Decreased number of peripheral myelinated nerve fibers, Axonal degen...	OMIM:604484
Phenylketonuria	Hypopigmentation of the skin, Seizure, Tremor, Lower limb spasticity, Ataxia	ORPHA:716
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Cerebral atrophy, Cerebral hypomyelination, Abnormal pyramidal sign, Tetraple...	OMIM:300475
Intellectual Developmental Disorder, X-Linked 104	Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Frontal upsweep of hair, Tremor, D...	OMIM:300983
Neuromyelitis Optica Spectrum Disorder	Nausea, Peripheral demyelination, Neuronal loss in central nervous system, Paraplegia	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, Spasticity, Axonal degeneration/regeneration, Tremor, Decreased number of peripher...	OMIM:609260
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Seizure, Tremor, Ataxia	OMIM:213000
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Spasticity, Seizure, Cerebral atrophy, Peripheral demyelination, Myoclonus, Babinski sign, Apraxi...	OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Onion bulb formation, Segmental peripheral demyelination/remyelination, Segmental peripheral demy...	OMIM:606483
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Spastic Ataxia 5, Autosomal Recessive	Spasticity, Spastic paraparesis, Dysdiadochokinesis, Generalized myoclonic seizure, Cerebellar at...	OMIM:614487
Congenital Central Hypoventilation Syndrome	Aganglionic megacolon, Abnormality of the autonomic nervous system	ORPHA:661
Kaya-Barakat-Masson Syndrome	Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Limb dystonia, Spastic tet...	OMIM:619125
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Paralysis, Gliosis, Dystonia, Athetosis, Dysphagia	OMIM:300857
Spinocerebellar Ataxia Type 15/16	Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ...	ORPHA:98769
Spastic Paraplegia 44, Autosomal Recessive	Spastic paraplegia, CNS hypomyelination, Dysmetria, Babinski sign, Lower limb spasticity, Ataxia,...	OMIM:613206
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia	OMIM:613227
Epilepsy, Progressive Myoclonic 7	Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:616187
Dystonia 31	Arm dystonia, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dystonia, Writ...	OMIM:619565
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Gliosis,...	OMIM:105550
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Spasticity, Tremor, Peripheral axonal neuropathy, Babinski sign, Ataxia	OMIM:611105
Sandhoff Disease, Adult Form	Spasticity, Sensory axonal neuropathy, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dysto...	ORPHA:309169
Spinocerebellar Ataxia, Autosomal Recessive 2	Spasticity, Incoordination, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremo...	OMIM:213200
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Hypertrophic nerve changes, Gait ataxia, Ataxia, Segmental peripheral demyelination/remyelination...	OMIM:601098
Juvenile Amyotrophic Lateral Sclerosis	Arm dystonia, CNS hypomyelination, Amyotrophic lateral sclerosis, Chorea, Spastic diplegia, Retro...	ORPHA:300605
4H Leukodystrophy	Cerebellar atrophy, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive ...	ORPHA:289494
Spinocerebellar Ataxia 43	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Tremor, 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, Peripheral demyelination, Decreased number of peripheral myelinated n...	OMIM:118200
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Giant Axonal Neuropathy	Spasticity, CNS hypomyelination, Pili canaliculi, Babinski sign, Woolly hair	ORPHA:643
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Axon...	OMIM:601596
Spinocerebellar Ataxia Type 25	Diffuse cerebellar atrophy, Vomiting, Gait ataxia, Babinski sign, Decreased number of large perip...	ORPHA:101111
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Cerebral atrophy, Peripheral demyelination, Chorea, Axonal degeneration, Peripheral hypomyelinati...	OMIM:604168
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Optic atrophy, Involuntary movements, Vomiting, Sensory axonal neuropathy, Epilepsia partialis co...	OMIM:271245
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Ataxia, Spasticity, Spastic paraparesis, Hypopigmented skin patches, Seizure, Cerebral atrophy, P...	OMIM:609136
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Spasticity, Cerebellar atrophy, Babinski sign, Delayed CNS myelination, Demyelinating peripheral ...	OMIM:619742
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Dystonia, Peripheral demyelination, Ataxia	OMIM:616684
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers, Periphe...	OMIM:118210
Bullous Dystrophy, Hereditary Macular Type	Hyperpigmentation of the skin, Acrocyanosis, Death in childhood	OMIM:302000
Developmental And Epileptic Encephalopathy 79	Cerebral cortical atrophy, Spasticity, Frontotemporal cerebral atrophy, CNS hypomyelination	OMIM:618559
Developmental And Epileptic Encephalopathy 71	Gliosis, Respiratory failure, Respiratory insufficiency	OMIM:618328
Spinocerebellar Ataxia 37	Cerebellar atrophy, Frequent falls, Tremor, Ataxia, Dysphagia	OMIM:615945
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Pelizaeus-Merzbacher Disease, Transitional Form	Spastic tetraparesis, CNS hypomyelination	ORPHA:280224
Hypomyelination-Congenital Cataract Syndrome	Cerebral hypomyelination, Abnormal pyramidal sign	ORPHA:85163
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles	DECIPHER:48
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Frequent falls, Gait ataxia, Spastic a...	OMIM:618369
Encephalopathy, Progressive, With Or Without Lipodystrophy	Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Myoclonus, Tremor, Abnormal pyramidal sign, ...	OMIM:615924
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Seizure, Hemiplegia, Tremor, Hemiparesis, Ataxia	OMIM:141500
Subacute Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Tremor, Axonal loss, Demyelinating motor neuropathy, Diffuse peripheral...	ORPHA:206594
Spinal Muscular Atrophy, X-Linked 2	Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn...	OMIM:301830
Diaminopentanuria	Neurodegeneration, Spasticity, Seizure, Ataxia	OMIM:222350
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Action tremor, Dysmetria...	OMIM:616291
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Sensorineural hearing ...	OMIM:600791
Leukodystrophy, Hypomyelinating, 10	Cerebral cortical atrophy, Spasticity, CNS hypomyelination, Prominent eyelashes, Leukodystrophy, ...	OMIM:616420
Myoclonic-Atonic Epilepsy	Myoclonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Tremor, Delayed CNS m...	OMIM:616421
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon	ORPHA:2151
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	CNS hypomyelination, Ataxia	ORPHA:88637
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Cerebellar atrophy, Hand tremor, Frequent falls, Incoordination, Dysmetria, Axonal degeneration, ...	OMIM:302800
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho...	OMIM:619274
Lissencephaly Due To Tuba1A Mutation	Optic nerve hypoplasia, Polymicrogyria, Aganglionic megacolon, Pachygyria, Agyria, Lissencephaly,...	ORPHA:171680
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Oculogyric crisis, Generalized myoclonic seizure, Focal impaired awareness seizure...	ORPHA:330050
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Segmental per...	OMIM:118220
Slowed Nerve Conduction Velocity, Autosomal Dominant	Peripheral demyelination, Onion bulb formation	OMIM:608236
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation, Impaired oropharyngeal swallow response	ORPHA:98916
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Vocal cord paresis, Peripheral demyelination, Clusters of axonal regeneration, Chronic axonal neu...	ORPHA:101097
Developmental And Epileptic Encephalopathy 78	Spasticity, Chorea, CNS hypomyelination, Cerebral palsy	OMIM:618557
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Tetraparesis, Decreased number of peripheral myelinated nerve fibers, Clumsiness, Hypertonia, Slu...	ORPHA:2386
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Facial palsy, Degeneration of anterior horn cells	OMIM:159950
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Hypopigmented skin patches, Fingernail...	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, Spastic paraplegia, Peripheral axonal neuropathy, Babinski sign, Lower limb spasti...	OMIM:615035
Folinic Acid-Responsive Seizures	Frontotemporal cerebral atrophy, Cerebellar atrophy, Chorea, Dystonia, Cerebral hypomyelination, ...	ORPHA:79097
Spinal Muscular Atrophy, Type I	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Hereditary Liability to Pressure Palsies (HNPP)	Motor conduction block, Abnormal motor neuron morphology	DECIPHER:31
Dermotrichic Syndrome	Aganglionic megacolon	ORPHA:99688
Neuropathy, Hereditary, With Liability To Pressure Palsies	Segmental peripheral demyelination/remyelination, Vocal cord paralysis	OMIM:162500
Leigh Syndrome, Nuclear	Pigmentary retinopathy, Spasticity, Hypertrichosis, CNS demyelination, Gliosis, Ataxia, Dystonia	OMIM:256000
Sporadic Creutzfeldt-Jakob Disease	Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi...	ORPHA:204
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Progressive extrapyramidal movement disorder, Pseudobulbar paralysis, Dysmetria, Diffuse cerebral...	ORPHA:438114
Diaphragmatic Hernia 5, X-Linked	Neonatal death	OMIM:306950
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:300717
Autosomal Recessive Spastic Paraplegia Type 35	Optic atrophy, Spastic paraplegia, Cerebral cortical atrophy, Dysdiadochokinesis, Cerebellar atro...	ORPHA:171629
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Inflammation of the large intestine, Hyperpigmentation of the skin, Nai...	ORPHA:46487
Frontotemporal Dementia With Motor Neuron Disease	Global brain atrophy, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function,...	ORPHA:275872
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Axonal regeneration, Peripheral demyelination, Onion bulb formation	OMIM:615185
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Action tremor, Rigidity, Babinski sign...	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, Axonal degeneration/regeneration, Decreased number of peripheral myelinated n...	OMIM:607706
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Seizure, Neurodegeneration, Dysmetria, Ank...	OMIM:612319
Generalized Epilepsy With Febrile Seizures-Plus	Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-...	ORPHA:36387
Primary Dystonia, Dyt27 Type	Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro...	ORPHA:464440
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration	OMIM:607791
Pelizaeus-Merzbacher disease	Abnormal CNS myelination, Leukodystrophy	DECIPHER:38
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, CNS hypomyelination, Leukodystrophy, Intention tremor, Babinski sign, Abnorma...	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	Dystrophic toenail, Fasciculations, Axonal degeneration/regeneration, Decreased number of periphe...	OMIM:600882
L-2-Hydroxyglutaric Aciduria	Global brain atrophy, Cerebellar atrophy, Severe demyelination of the white matter, Abnormality o...	OMIM:236792
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur...	OMIM:617831
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure, Dyst...	OMIM:618425
Nevoid Hypermelanosis, Linear And Whorled	Hyperpigmented streaks	OMIM:614323
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Gliosis, Neuronal loss...	OMIM:604218
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Classic Phenylketonuria	Hypopigmentation of the skin, Seizure, Hemiplegia, Paraplegia, Tremor, Hypertonia, Hypopigmentati...	ORPHA:79254
Microcephaly-Capillary Malformation Syndrome	Abnormal hair whorl, CNS hypomyelination, Small nail, Cerebral atrophy, Myoclonus, Spastic tetrap...	OMIM:614261
Developmental And Epileptic Encephalopathy 4	Spastic paraplegia, Cerebral atrophy, Tremor, Cerebral hypomyelination, Delayed CNS myelination, ...	OMIM:612164
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Cerebellar atrophy, Cerebral atrophy, Seizure, Decreased number of peripheral myelinated nerve fi...	OMIM:607250
Leukoencephalopathy With Vanishing White Matter 1	Cerebral hypomyelination, CNS demyelination, Gliosis, Spasticity	OMIM:603896
Focal Facial Dermal Dysplasia Type I	Sparse lateral eyebrow, Spotty hyperpigmentation, Low anterior hairline, Absent eyelashes, Spotty...	ORPHA:79133
Dyskinesia, Limb And Orofacial, Infantile-Onset	Seizure, Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus	OMIM:616921
Pontocerebellar Hypoplasia, Type 4	Spasticity, Myoclonus, Gliosis, Hypertonia, Dysphagia	OMIM:225753
Spinocerebellar Ataxia Type 31	Spasticity, Gait ataxia, Tremor, Cerebellar atrophy	ORPHA:217012
Bresek Syndrome	Neonatal death, Aganglionic megacolon, Cleft palate, Optic nerve hypoplasia	ORPHA:85284
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Spastic paraplegia, CNS hypomyelination, Ataxia	OMIM:619688
Spinocerebellar Ataxia 23	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Babinski sign, CNS demyelination...	OMIM:610245
Alopecia Totalis	Inflammation of the large intestine, Alopecia totalis, Vitiligo, Alopecia of scalp, Onycholysis, ...	ORPHA:700
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Spinocerebellar Ataxia 20	Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor	OMIM:608687
Dystonia 27	Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O...	OMIM:616411
Vogt-Koyanagi-Harada Disease	Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vitiligo, Abn...	ORPHA:3437
Developmental And Epileptic Encephalopathy 86	Dystonia, CNS hypomyelination	OMIM:618910
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Heterochromia iridis, Tremor, Premature graying of hair	ORPHA:66633
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Cerebral atrophy, 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	Peripheral demyelination, Dysphagia, Axonal degeneration/regeneration	OMIM:607736
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Chorea, Gait ataxia, Myoclonus, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl...	OMIM:618587
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2	Enterocolitis, CNS hypomyelination	OMIM:620425
Secondary Short Bowel Syndrome	Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic megacolon, Small inte...	ORPHA:95427
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Segawa Syndrome, Autosomal Recessive	Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst...	OMIM:605407
Combined Oxidative Phosphorylation Deficiency 24	Spasticity, CNS hypomyelination, Cerebellar atrophy, Neurodegeneration, Gliosis, Neuronal loss in...	OMIM:616239
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Segmental peripheral demyelination/remyelination, Onion bulb formation	OMIM:311070
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Tongue fasciculations, Sparse eyebrow, Upper limb spasticity, CNS hypomyelination, Cerebellar atr...	OMIM:617193
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	CNS hypomyelination, Rigidity, Hypertonia, High palate, Choreoathetosis	OMIM:620023
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:616081
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	CNS hypomyelination, Babinski sign, Lower limb spasticity, Ataxia, Spastic diplegia	OMIM:615281
Hypertrichosis Lanuginosa Congenita	Generalized hirsutism, Thick eyebrow, Abnormality of skin pigmentation	ORPHA:2222
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Pigmentary retinopathy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Babinski sign, Delayed ...	OMIM:619090
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Delayed CNS myelination,...	OMIM:619260
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Hyperpigmentation of the skin, Spotty hyperpigmentatio...	ORPHA:158681
Microcephaly 10, Primary, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Gliosis, Hypertonia	OMIM:615095
Epilepsy, Early-Onset, 5, With Or Without Developmental Delay	Focal sensory seizure with visual features, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Fo...	OMIM:615400
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Typical absence seizure, Limb myoclonus, Seizure, Frequent falls, Myoclonus, Tremor, Abnormal low...	ORPHA:2590
Waardenburg Syndrome, Type 2E	Iris hypopigmentation, Hypopigmented skin patches, Premature graying of hair, Ocular albinism, Wh...	OMIM:611584
Spasticity, Childhood-Onset, With Hyperglycinemia	Spasticity, Leukodystrophy, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Spastic diplegia	OMIM:616859
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Abnormal cranial nerve morphology, Onion bulb formation, Peripheral hypomyelination	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 cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Generalized...	ORPHA:79263
Hypotrichosis 8	Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Sparse eyelashes, Sparse axillary ...	OMIM:278150
Spinocerebellar Ataxia Type 20	Upper limb postural tremor, Cerebellar atrophy, Laryngeal dystonia, Bradykinesia, Gait ataxia, Ab...	ORPHA:101110
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of the skin, Seizure, Ataxia, Hypopigmentation of hair	ORPHA:411515
Combined Saposin Deficiency	Fasciculations, Myoclonus, Hyperkinetic movements, Babinski sign, CNS demyelination, Neuronal los...	OMIM:611721
X-Linked Lissencephaly With Abnormal Genitalia	Pachygyria, Aganglionic megacolon, 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	Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul...	OMIM:608340
Dystonia 3, Torsion, X-Linked	Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi...	OMIM:314250
Pelizaeus-Merzbacher Disease, Classic Form	Spasticity, Head tremor, Abnormality of extrapyramidal motor function, Dystonia, Cerebral hypomye...	ORPHA:280219
Epilepsy, Familial Adult Myoclonic, 4	Bilateral tonic-clonic seizure, Myoclonus, Seizure, Tremor	OMIM:615127
Spinocerebellar Ataxia 18	Sensory axonal neuropathy, Cerebellar atrophy, Tremor, Dysmetria, Babinski sign, Progressive gait...	OMIM:607458
Primary Dystonia, Dyt13 Type	Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac...	ORPHA:98807
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Abnormal peripheral action potential amplitude, Tremor, Respiratory failure, Abnormal seventh cra...	ORPHA:90117
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Spasticity, Leukodystrophy, Pseudobulbar paralysis, Babinski sign, Constipation, Corpus callosum ...	OMIM:169500
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Delayed myelination, Leukodystrophy, Spasticity	OMIM:617613
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Decreased nerve conduction velocity, Abnormal upper motor...	OMIM:606070
Optic Atrophy 3, Autosomal Dominant	Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function	OMIM:165300
Amyotrophic Lateral Sclerosis 1	Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ...	OMIM:105400
Deafness, Autosomal Dominant 9	Vertigo, Postlingual sensorineural hearing impairment, Tinnitus, Cochlear degeneration	OMIM:601369
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia	ORPHA:401901
Ddost-Cdg	Gastroesophageal reflux, CNS hypomyelination, Oromotor apraxia, Tremor	ORPHA:300536
Leukodystrophy, Hypomyelinating, 22	Babinski sign, CNS hypomyelination, Upper limb hypertonia, Lower limb hypertonia	OMIM:619328
Spinocerebellar Ataxia 40	Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Pontocereb...	OMIM:616053
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Spasticity, Gastroesophageal reflux, CNS hypomyelination, Delayed CNS myelination, Hypertonia	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	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Caudate atrophy, Amyotrophic lateral sclerosis, Hippocampal atrophy	OMIM:617892
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Axonal regeneration, Paralysis, Per...	OMIM:605285
Nemaline Myopathy 8	Facial palsy, Respiratory failure, Death in infancy	OMIM:615348
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Rigidity, Babinski sign, Delayed CNS myelination, Clonus, Gliosis, Hypertonia, Myoclonic spasms, ...	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, Gastroesophageal reflux, Abnormal autonomic nervous system physiology	ORPHA:99803
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebellar vermis atrophy, High palate, CNS hypomyelination, Cerebral atrophy	OMIM:615760
Deafness-Vitiligo-Achalasia Syndrome	Achalasia, Hypopigmented skin patches	ORPHA:3239
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Dysmetria, Tremor, Lower limb spasticity, A...	OMIM:617916
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Cerebral cortical atrophy, Amyotrophic lateral sclerosis	OMIM:616437
Huntington Disease-Like 1	Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Incoordination, Chorea, Gai...	ORPHA:157941
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Neuronal loss in central nervous system, Amyotrophic lateral sclerosis	OMIM:608030
Developmental And Epileptic Encephalopathy 29	Blepharospasm, Spasticity, CNS hypomyelination, Cerebral atrophy, Chorea, Limb dystonia	OMIM:616339
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Vocal cord paralysis, Oral-pharyngeal dysphagia, Peripheral hypomyelination	OMIM:616287
Xeroderma Pigmentosum Variant	Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90342
Charcot-Marie-Tooth Disease, Type 4J	Axonal loss, Frequent falls, Onion bulb formation, Peripheral hypomyelination	OMIM:611228
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Myoclonus, High palate, Delayed CNS myelination, CNS hypomyelination	OMIM:616158
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Spastic Paraplegia 6, Autosomal Dominant	Spastic paraplegia, Seizure, Tremor, Degeneration of the lateral corticospinal tracts, Babinski s...	OMIM:600363
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Seizure, Gait ataxia, Limb dystonia, Parkinsonism, Craniofaci...	ORPHA:71517
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel...	OMIM:609311
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Adult Neuronal Ceroid Lipofuscinosis	Spasticity, Seizure, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness,...	ORPHA:79262
Spinocerebellar Ataxia 7	Optic atrophy, Pigmentary retinopathy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extr...	OMIM:164500
Spinocerebellar Ataxia Type 38	Gait ataxia, Tremor, Cerebellar atrophy	ORPHA:423296
Adenylosuccinase Deficiency	Spasticity, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Hemiplegia, Myoclonus, Gai...	OMIM:103050
Multiple Mitochondrial Dysfunctions Syndrome 4	Spasticity, Leukodystrophy	OMIM:616370
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Ring Chromosome 10 Syndrome	Aganglionic megacolon	ORPHA:1438
Rhombencephalosynapsis	Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Anal atresia...	ORPHA:59315
Spastic Paraplegia 11, Autosomal Recessive	Spastic paraplegia, Cerebral cortical atrophy, Decreased number of peripheral myelinated nerve fi...	OMIM:604360
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10	Babinski sign, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased number of peripheral...	OMIM:620542
Developmental And Epileptic Encephalopathy 75	Cerebral cortical atrophy, Spasticity, CNS hypomyelination, Babinski sign, Frontal cortical atrophy	OMIM:618437
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	High, narrow palate, Spasticity, Myoclonus, Jejunal atresia, Generalized hirsutism, Cerebral hypo...	OMIM:612949
Developmental And Epileptic Encephalopathy 93	Spastic tetraparesis, CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy	OMIM:618012
Spastic Ataxia 2, Autosomal Recessive	Spasticity, Cerebellar atrophy, Cerebral atrophy, Fasciculations, Gait ataxia, Dysmetria, Tremor,...	OMIM:611302
Glycosylphosphatidylinositol Biosynthesis Defect 15	Optic atrophy, Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence)...	OMIM:617810
Neuropathy, Congenital Hypomyelinating, 3	Spasticity, Gastroesophageal reflux, CNS hypomyelination, Cerebellar atrophy, Dystonia, Babinski ...	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	Segmental peripheral demyelination/remyelination, Peripheral demyelination	ORPHA:2932
Cerebral Creatine Deficiency Syndrome 2	Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus...	OMIM:612736
Metachromatic Leukodystrophy	Optic atrophy, Seizure, Peripheral demyelination, Chorea, Babinski sign, Tetraplegia, Ataxia, Dys...	OMIM:250100
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:614072
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hirsutism, Abnormal eyebrow morphology, Irregular hyperpigmentation, Generalized hypo...	ORPHA:1816
Atypical Pantothenate Kinase-Associated Neurodegeneration	Optic atrophy, Spasticity, Frequent falls, Chorea, Limb dystonia, Upper motor neuron dysfunction,...	ORPHA:216873
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Highly arched eyebrow, Bifid uvula, CNS hypomyelination, Lumbar hypertrichosis, Low anterior hair...	OMIM:618622
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Dystonia, Leukodystrophy	OMIM:616763
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Dystonia, Abnormal pyramidal sign, Leukodystrophy, Ataxia	OMIM:619196
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Dys...	OMIM:619708
Goldberg-Shprintzen Megacolon Syndrome	Pachygyria, Aganglionic megacolon, Cleft palate	ORPHA:66629
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	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	Hematochezia, Inflammation of the large intestine, Hypopigmentation of the skin, Ocular albinism,...	OMIM:203300
Spinocerebellar Ataxia 48	Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Bilatera...	OMIM:618093
Deafness, X-Linked 2	Dilatated internal auditory canal, Conductive hearing impairment, Progressive sensorineural heari...	OMIM:304400
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Onion bulb formation, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased numb...	OMIM:605588
Machado-Joseph Disease	Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasciculations, Limb ataxia, Rigid...	OMIM:109150
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia...	OMIM:615157
Adult Krabbe Disease	Spasticity, Tetraparesis, Progressive spastic paraparesis, Hemiplegia, Peripheral demyelination, ...	ORPHA:206448
Beta-Propeller Protein-Associated Neurodegeneration	Optic atrophy, Spastic paraparesis, Cerebellar atrophy, Seizure, Cerebral atrophy, Tremor, Rigidi...	ORPHA:329284
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon	ORPHA:261222
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Posterior Column Ataxia With Retinitis Pigmentosa	Optic atrophy, Pigmentary retinopathy, Peripheral demyelination, Achalasia, Bone spicule pigmenta...	OMIM:609033
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Ataxia, Spasticity, Global brain atrophy, CNS hypomyelination, Broad eyebrow, Limb hypertonia, Hi...	ORPHA:481152
Charcot-Marie-Tooth Disease, Type 4B2	Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased number of perip...	OMIM:604563
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Dystonia 11, Myoclonic	Myoclonus, Writer's cramp, Tremor, Torticollis	OMIM:159900
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Neurodegeneration, Hirsutism, Diffuse cerebral atrophy, CNS demyelination, Gl...	OMIM:214150
Spinocerebellar Ataxia Type 37	Diffuse cerebellar atrophy, Cerebellar vermis atrophy, Cogwheel rigidity, Limb dysmetria, Myoclon...	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	Spasticity, Cerebellar atrophy, Seizure, Cerebral atrophy, Cerebellar vermis atrophy, Tremor, Ank...	OMIM:617435
Spinocerebellar Ataxia 12	Cerebral cortical atrophy, Cerebellar atrophy, Head tremor, Action tremor, Dysmetria, Axial dysto...	OMIM:604326
Epilepsy, Familial Adult Myoclonic, 1	Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Tremor	OMIM:601068
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Cerebral atrophy, Postural tremor, Limb dysmetria, Action tremor, Intention t...	ORPHA:98762
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebral cortical atrophy, Spasticity, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, D...	OMIM:619576
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles	OMIM:605055
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, I...	ORPHA:163746
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Congenital Neuronal Ceroid Lipofuscinosis	Spasticity, Cerebellar atrophy, Abnormal astrocyte morphology, Diffuse demyelination of the cereb...	ORPHA:168486
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Diffuse cerebral atrophy, ...	ORPHA:314632
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Tremor, Ankle clonus, Babinski si...	ORPHA:521406
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Global brain atrophy, Cerebellar atrophy, Gait ataxia, Intention tremor, Dysmetria, Hirsutism, Tr...	OMIM:610185
Developmental And Epileptic Encephalopathy 97	Epileptic spasm, Seizure, Tremor	OMIM:619561
Retinal Dystrophy With Leukodystrophy	Truncal titubation, Dysmetria, CNS hypomyelination, Cleft palate	OMIM:618863
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Optic...	OMIM:617087
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Cerebral palsy, Babinski sign, Limb hypertonia, Gliosis, Ataxia, High palate,...	OMIM:612936
Obesity Due To Prohormone Convertase I Deficiency	Hypoglycemic seizures, Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Hypoglycemic seizures, Red hair, Hypopigmentation of the skin	ORPHA:71526
Developmental And Epileptic Encephalopathy 42	Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Hypertonia, Ataxia, Foca...	OMIM:617106
Parkinson Disease 15, Autosomal Recessive Early-Onset	Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe...	OMIM:260300
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Tremor	OMIM:618637
Hyperphenylalaninemia, Bh4-Deficient, C	Seizure, Myoclonus, Tremor, Hypertonia, Dystonia, Dysphagia, Choreoathetosis	OMIM:261630
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of the skin, Cerebellar atrophy, Delayed CNS myelination, Hypopigmentation of ha...	OMIM:618541
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Spastic paraplegia, Spasticity, Xerostomia, CNS hypomyelination, Dysmetria, Tremor, Babinski sign...	OMIM:618527
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Spasticity, Hemiballismus, Seizure, Cerebral atrophy, Gastroparesis, Myoclonus, Gait ataxia, Trem...	OMIM:618877
Dravet Syndrome	Incoordination, Action tremor, Focal hemiclonic seizure, Parkinsonism, Photosensitive tonic-cloni...	ORPHA:33069
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, CNS hypomyelination, Ataxia	ORPHA:320401
Frontotemporal Dementia	Neuronal loss in central nervous system, Amyotrophic lateral sclerosis	OMIM:600274
Alpha-Methylacyl-Coa Racemase Deficiency	Pigmentary retinopathy, Spasticity, Seizure, Focal-onset seizure, Tremor, Hemiparesis, Ataxia, St...	OMIM:614307
Pelizaeus-Merzbacher Disease, Connatal Form	Cerebral hypomyelination, Lower limb spasticity, Gliosis, Ataxia, Abnormal myelination, Titubation	ORPHA:280210
Autosomal Recessive Spastic Paraplegia Type 23	Silver-gray hair, Spastic paraplegia, Seizure, Multiple lentigines, Vitiligo, Spastic gait, Bowel...	ORPHA:101003
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Seizure, Bilateral tonic-clonic seizure with...	ORPHA:98795
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Optic atrophy, Small nail, Seizure, Tremor, Spastic tetraparesis	OMIM:619470
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 4	Premature graying of hair	OMIM:616371
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Speech apraxia, Chorea, Esophagitis, T...	OMIM:615356
Charcot-Marie-Tooth Disease, Dominant Intermediate C	Axonal regeneration, Onion bulb formation	OMIM:608323
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Cerebellar atrophy, Chorea, Limb ataxia, Gait ataxia, Tremor, Axonal degeneration, Peripheral axo...	OMIM:208920
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination	ORPHA:99944
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ileus	ORPHA:52503
Striatal Degeneration, Autosomal Dominant 1	Degeneration of the striatum, Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech	OMIM:609161
Epilepsy, Familial Adult Myoclonic, 3	Bilateral tonic-clonic seizure, Myoclonus, Focal-onset seizure, Tremor	OMIM:613608
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells	OMIM:253550
Menkes Disease	Alopecia, Hypopigmentation of the skin, Seizure, Epileptic spasm, Babinski sign, Hypertonia, Brit...	OMIM:309400
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Tangier Disease	Peripheral demyelination, Facial diplegia, Nail dystrophy, Peripheral axonal neuropathy, Nail dys...	OMIM:205400
Neuropathy, Congenital Hypomyelinating, 2	Facial diplegia, Onion bulb formation, Decreased number of peripheral myelinated nerve fibers	OMIM:618184
Infantile Sialic Acid Storage Disease	Cerebral atrophy, Hypopigmentation of the skin, Fair hair, Seizure	OMIM:269920
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Epilepsy, Progressive Myoclonic, 6	Ataxia, Generalized non-motor (absence) seizure, Myoclonus, Tremor, Bilateral tonic-clonic seizur...	OMIM:614018
Joubert Syndrome With Renal Defect	Hydrocephalus, Aganglionic megacolon, Encephalocele, Cleft palate	ORPHA:220497
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy	ORPHA:99953
Huppke-Brendel Syndrome	CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy	OMIM:614482
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Seizure, Facial diplegia, Axonal degeneration/regeneration, Tremor, Low anterior hairline, Periph...	OMIM:218000
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Developmental And Epileptic Encephalopathy 32	Myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclo...	OMIM:616366
Amyotrophic Lateral Sclerosis 2, Juvenile	Delayed somatosensory central conduction time, Abnormal upper motor neuron morphology, Abnormal l...	OMIM:205100
Supranuclear Palsy, Progressive, 1	Neurofibrillary tangles, Cerebral atrophy, Astrocytosis, Limb dystonia, Axial dystonia, Retrocoll...	OMIM:601104
Severe Neurodegenerative Syndrome With Lipodystrophy	Poor motor coordination, Spasticity, Seizure, Tetraparesis, Cerebral atrophy, Limb dystonia, Myoc...	ORPHA:363400
Focal Facial Dermal Dysplasia Type Iii	Highly arched eyebrow, Sparse lateral eyebrow, Hypopigmented skin patches, Distichiasis, Abnormal...	ORPHA:1807
Neurodegeneration With Brain Iron Accumulation 6	Spastic paraparesis, Neurodegeneration, Motor axonal neuropathy, Rigidity, Dystonia, Oromandibula...	OMIM:615643
Al-Raqad Syndrome	Hypopigmentation of the skin, Gait ataxia, Seizure, Chronic constipation	OMIM:616459
Cartilage-Hair Hypoplasia	Sparse eyebrow, Anal stenosis, Fair hair, Fine hair, Sparse eyelashes, Aganglionic megacolon, Spa...	OMIM:250250
Leukoencephalopathy, Progressive, With Ovarian Failure	Spasticity, Cerebellar atrophy, Hand tremor, Neurodegeneration, Babinski sign, Apraxia, Ataxia, D...	OMIM:615889
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Dystonia, Myoclonus, Tremor, Frequent falls	OMIM:619647
Griscelli Syndrome Type 2	Iris hypopigmentation, Seizure, Premature graying of hair, Partial albinism, Hypertonia, Hypopigm...	ORPHA:79477
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Gait ataxia, Tremor, Dysmetria, Rigidity, Tonic seizure, Bilateral tonic-clon...	OMIM:618090
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Abnormal motor nerve conduction velocity, Respiratory failure, Facial ...	OMIM:614399
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	ORPHA:600
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Aganglionic megacolon, Encephalocele	ORPHA:2318
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Spasticity, CNS hypomyelination, Myoclonus, Exaggerated startle response	ORPHA:309155
Immunodeficiency 83, Susceptibility To Viral Infections	Gliosis, Hemiparesis	OMIM:613002
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Cerebral atrophy, Brain atrophy, Limb dystonia, Hypoplastic toenails, Gliosis...	OMIM:604377
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Spasticity, Focal myoclonic seizure, Progressive spastic paraplegia, Seizure, Cerebral atrophy, D...	ORPHA:464282
Spinocerebellar Ataxia, Autosomal Recessive 16	Spasticity, Cerebellar atrophy, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia	OMIM:615768
Dystonia, Dopa-Responsive	Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst...	OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Demyelinating sensory neuropathy, Cerebellar atrophy, Gait ataxia, Dysmetria, Tremor, Peripheral ...	OMIM:618387
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Neonatal respiratory distress, Respiratory failure	OMIM:619057
American Trypanosomiasis	Aganglionic megacolon, Achalasia	ORPHA:3386
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Degeneration of anterior horn cells, Axonal degeneration	OMIM:604320
Obesity And Hypopigmentation	Red hair	OMIM:620195
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy...	ORPHA:251282
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Hyperkinetic mov...	OMIM:617493
Spinocerebellar Ataxia 25	Vomiting, Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Babinski si...	OMIM:608703
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cerebral cortical atrophy, Chorea, Dysmetria, Peripheral hypomyelination, Abnormal pyramidal sign...	ORPHA:48431
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory failure, Respiratory insufficiency	ORPHA:266
Opticocochleodentate Degeneration	Hearing impairment, Cochlear degeneration	OMIM:258700
Peroxisomal Acyl-Coa Oxidase Deficiency	Pigmentary retinopathy, Leukodystrophy, Babinski sign, CNS demyelination, Hypertonia, Dystonia, D...	OMIM:264470
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Spasticity, Cerebral palsy, Cerebral atrophy, Limb dystonia, Myoclonus, Opisthotonus, Babinski si...	OMIM:619847
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:612069
Methionine Malabsorption Syndrome	Diarrhea, Seizure, Blue irides, White hair	OMIM:250900
Developmental Delay And Seizures With Or Without Movement Abnormalities	Myoclonic absence seizure, Bradykinesia, Tremor, Rigidity, Bilateral tonic-clonic seizure, Ataxia...	OMIM:617836
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Seizure, Myoclonus, Tremor, Constipation, Dy...	ORPHA:98794
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	CNS hypomyelination, Cerebellar atrophy, Gait ataxia, Protruding tongue, Opisthotonus, Delayed CN...	OMIM:619580
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Hydrocephalus, Stillbirth, Aqueductal stenosis, Respiratory failure	OMIM:276950
Odontotrichoungual-Digital-Palmar Syndrome	Abnormality of hair texture, Nail dysplasia, Hypopigmentation of the skin, Nail dystrophy	OMIM:601957
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Joubert Syndrome	Hydrocephalus, Aganglionic megacolon, Encephalocele	ORPHA:475
Basal Ganglia Calcification, Idiopathic, 1	Seizure, Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sig...	OMIM:213600
Hsd10 Disease	Optic atrophy, Spastic paraparesis, Frontotemporal cerebral atrophy, Seizure, Myoclonus, Tremor, ...	ORPHA:391417
Spinocerebellar Ataxia Type 14	Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cer...	ORPHA:98763
Pontocerebellar Hypoplasia, Type 1A	Cerebral cortical atrophy, Basal ganglia gliosis, Degeneration of anterior horn cells	OMIM:607596
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Spasticity, Global brain atrophy, Cerebral cortical atrophy, Brain atrophy...	ORPHA:457351
Charcot-Marie-Tooth Disease, Type 4B1	Irregular myelin loops, Facial palsy, Myelin outfoldings	OMIM:601382
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Dysto...	OMIM:606159
Oculocutaneous Albinism Type 1	Iris hypopigmentation, Generalized hypopigmentation of hair, White eyebrow, White eyelashes, Blue...	ORPHA:352731
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebral cortical atrophy, Sparse eyebrow, Spasticity, Cerebellar atrophy, Cataplexy, Fasciculati...	ORPHA:496641
Pontocerebellar Hypoplasia, Type 7	Optic atrophy, Tongue fasciculations, Hypopigmentation of the skin, Spasticity, Spastic paraplegi...	OMIM:614969
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Spasticity, Diffuse cerebral atrophy, Delayed CNS myelination, Clonus, Hypertonia, Dysphagia	OMIM:613668
Visceral Myopathy 1	Microcolon, Intestinal pseudo-obstruction, Megaduodenum, Thinning of outer muscular layer of smal...	OMIM:155310
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Aganglionic megacolon, White hair, Fine hair	ORPHA:935
Angelman Syndrome	Cerebral cortical atrophy, Hypopigmentation of the skin, Fair hair, Seizure, Progressive gait ata...	OMIM:105830
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Cerebellar atrophy, Seizure, Myoclonus, Tremor, Generalized tonic s...	OMIM:612016
Lichen Planopilaris	Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Abnormal intestine morpholo...	ORPHA:525
Angelman Syndrome	Iris hypopigmentation, Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Ga...	ORPHA:72
Hemimegalencephaly	Myoclonus, Gliosis, Hemiparesis	ORPHA:99802
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Dystonia, Respiratory failure, Death in infancy	OMIM:616277
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Congenital Alveolar Capillary Dysplasia	Volvulus, Duodenal stenosis, Intestinal malrotation, Aganglionic megacolon, Tracheoesophageal fis...	ORPHA:210122
Amyotrophic Lateral Sclerosis 28	Respiratory failure	OMIM:620452
Joubert Syndrome With Ocular Defect	Hydrocephalus, Aganglionic megacolon, Encephalocele, Cleft palate	ORPHA:220493
Progressive Supranuclear Palsy-Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Frequent fal...	ORPHA:240103
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Abnormal pyramidal sign, Gliosis, Neuron...	OMIM:256600
Adrenoleukodystrophy	Spastic paraplegia, Alopecia, Seizure, Incoordination, Neurodegeneration, Limb ataxia, Hyperpigme...	OMIM:300100
Perching Syndrome	Cyanosis	OMIM:617055
Familial Visceral Myopathy	Aganglionic megacolon, Cleft palate, Umbilical hernia	ORPHA:2604
Obesity, Hyperphagia, And Developmental Delay	Generalized non-motor (absence) seizure, Delayed myelination, Seizure	OMIM:613886
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Anteriorly placed anus, Abnormal rectum morphology, Aganglionic megacolon, Hydrocephalus, Cleft p...	OMIM:239300
Phenylketonuria	Fair hair, Seizure, Blue irides, Generalized hypopigmentation	OMIM:261600
Spinal Muscular Atrophy, Type Iii	Degeneration of anterior horn cells	OMIM:253400
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Seizure, Myoclonus, Tremor, Abnormal pyramidal sign, Dystonia, Progressive ce...	ORPHA:139485
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Absent brainstem auditory responses, Head titubation, Gliosis, Vestibular areflexia, Respiratory ...	ORPHA:3240
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Chorea, Frequent falls, Hemiballismus, Tremor	ORPHA:494526
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Aganglionic megacolon, Anal atresia, Anal stenosis, Cleft palate	OMIM:614749
Abetalipoproteinemia	Peripheral demyelination, CNS demyelination, Ataxia	OMIM:200100
Charcot-Marie-Tooth Disease Type 2B1	Sensory axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor ax...	ORPHA:98856
Giant Axonal Neuropathy 1, Autosomal Recessive	Spastic paraplegia, Vomiting, Sensory axonal neuropathy, Motor axonal neuropathy, Decreased numbe...	OMIM:256850
Pelizaeus-Merzbacher Disease In Female Carriers	Spastic paraparesis, CNS hypomyelination, Hand apraxia, Babinski sign, Lower limb spasticity	ORPHA:280229
Mannosidosis, Alpha B, Lysosomal	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Hypertrichosis, Thick eyebrow, Gait at...	OMIM:248500
Pick Disease Of Brain	Gliosis, Neuronal loss in central nervous system	OMIM:172700
Neurodegeneration With Brain Iron Accumulation 5	Spastic paraparesis, Cerebellar atrophy, Seizure, Bradykinesia, Neurodegeneration, Cerebral atrop...	OMIM:300894
Congenital Disorder Of Glycosylation, Type Iibb	Spasticity, Myoclonic seizure, Cerebellar atrophy, Tetraparesis, Tremor, Tonic seizure, Delayed C...	OMIM:620546
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Gliosis	OMIM:615119
Molybdenum Cofactor Deficiency, Type B	Seizure, Cerebral atrophy, Peripheral demyelination, Diffuse cerebral atrophy, Opisthotonus, Hype...	OMIM:252160
Congenital Myopathy 14	Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness	OMIM:618414
Immunodeficiency 95	Respiratory failure	OMIM:619773
Glutamine Deficiency, Congenital	CNS hypomyelination, Brain atrophy	OMIM:610015
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Parkinsonism-Dystonia 1, Infantile-Onset	Gastroesophageal reflux, Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rig...	OMIM:613135
Hepatic Veno-Occlusive Disease	Jaundice, Respiratory failure	ORPHA:890
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Abnormal oligodendroglia morphology	ORPHA:217260
Leukoencephalopathy, Cystic, Without Megalencephaly	Spasticity, Ataxia, Abnormal CNS myelination, Dystonia, Athetosis	OMIM:612951
Phosphoserine Aminotransferase Deficiency	Cyanotic episode, Death in infancy	OMIM:610992
Leukodystrophy, Hypomyelinating, 17	Cerebral atrophy, Cerebellar atrophy, Leukodystrophy, Hirsutism	OMIM:618006
Behr Syndrome	Optic atrophy, Sensory axonal neuropathy, Cerebellar atrophy, Frequent falls, Cerebellar vermis a...	OMIM:210000
Trichothiodystrophy 8, Nonphotosensitive	Sparse hair, Sparse eyebrow, Spasticity, Trichorrhexis nodosa, Ankle clonus, Babinski sign, Crani...	OMIM:619691
Spinocerebellar Ataxia 50	Cerebellar atrophy, Cerebellar vermis atrophy, Chorea, Head tremor, Myoclonus, Action tremor, Pos...	OMIM:620158
Dystonia 28, Childhood-Onset	Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli...	OMIM:617284
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Spasticity, Gastroesophageal reflux, Esophagitis, Cerebral hypomyelination, Hypertonia, Abnormali...	ORPHA:79351
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Cerebral cortical atrophy, CNS hypomyelination, Myoclonus, Delayed myelina...	OMIM:614922
Hyperekplexia 4	Respiratory failure, Umbilical hernia	OMIM:618011
Pontocerebellar Hypoplasia, Type 2A	Cerebral cortical atrophy, Chorea, Opisthotonus, Gliosis, Dystonia, Dysphagia, Extrapyramidal dys...	OMIM:277470
X-Linked Parkinsonism-Spasticity Syndrome	Spasticity, Spastic paraparesis, Resting tremor, Seizure, Cogwheel rigidity, Ankle clonus, Diffus...	ORPHA:363654
Orofaciodigital Syndrome Xvii	High, narrow palate, CNS hypomyelination	OMIM:617926
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Mitochondrial Dna-Associated Leigh Syndrome	Ataxia, Optic atrophy, Pigmentary retinopathy, Spasticity, Seizure, Chorea, Infantile spasms, Gai...	ORPHA:255210
Parkinson Disease 1, Autosomal Dominant	Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Dystonia, Parkinsonism, Gliosis, Brady...	OMIM:168601
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer...	OMIM:606353
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Abnormal myelination, Seizure	ORPHA:85179
Lissencephaly 8	Cerebral hypomyelination, Appendicular spasticity	OMIM:617255
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Cupped ear, Sensorineural hearing impairment, Mi...	OMIM:602588
Inherited Creutzfeldt-Jakob Disease	Progressive cerebellar ataxia, Global brain atrophy, Central nervous system degeneration, Amyloid...	ORPHA:282166
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Riboflavin Transporter Deficiency	Iris hypopigmentation, Cerebral cortical atrophy, Seizure, Abnormal cranial nerve morphology, Myo...	ORPHA:97229
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Facial palsy, Respiratory failure, Respiratory insufficiency	ORPHA:370968
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Spasticity, CNS hypomyelination, Cerebellar atrophy, Thick eyebrow, Cerebral hypomyelination, Del...	OMIM:618367
Spastic Ataxia, Charlevoix-Saguenay Type	Spasticity, Spastic gait, Progressive truncal ataxia, Cerebellar vermis atrophy, Upper motor neur...	OMIM:270550
Parkinsonism-Dystonia 3, Childhood-Onset	Global brain atrophy, Cerebellar atrophy, Chorea, Action tremor, Tremor, Hyperkinetic movements, ...	OMIM:619738
Progressive Supranuclear Palsy	Blepharospasm, Cerebral cortical atrophy, Tremor, Rigidity, Dystonia, Gliosis, Neuronal loss in c...	ORPHA:683
Classic Glucose Transporter Type 1 Deficiency Syndrome	Dystonia, Cyanosis, Choreoathetosis	ORPHA:71277
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Myoclonus, Tremor, Dysmetria, Bilateral tonic-clonic seizure with generalized...	OMIM:619028
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Leukodystrophy, Dysmetria, Babinski sign, Delayed CNS myelination, Head titubation, Ataxia, Inten...	OMIM:618688
S-Adenosylhomocysteine Hydrolase Deficiency	Abnormality of hair texture, Delayed myelination, CNS hypomyelination, Hepatocellular carcinoma	ORPHA:88618
Non-Specific Early-Onset Epileptic Encephalopathy	Optic atrophy, Spasticity, Gastroesophageal reflux, Involuntary movements, Seizure, Cerebral atro...	ORPHA:442835
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Facial palsy, Frequent falls, Onion bulb formation	OMIM:607684
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Febrile seizure (within the age range of 3 months to 6 years), Epileptic spasm, Myoclonus, Genera...	ORPHA:289266
Pyruvate Dehydrogenase E1-Alpha Deficiency	Gastroesophageal reflux, Cerebral atrophy, Gliosis, Ataxia, Cerebellar gliosis, Dystonia, Basal g...	ORPHA:79243
Leukodystrophy, Hypomyelinating, 9	Leukodystrophy, Pseudobulbar paralysis, Cerebral atrophy, Dysmetria, Abnormality of extrapyramida...	OMIM:616140
Alzheimer Disease 3	Cerebral cortical atrophy, Neurofibrillary tangles, Spastic tetraparesis, Myoclonus, Abnormality ...	OMIM:607822
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Spastic paraplegia, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Tremo...	ORPHA:477673
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Cyanosis, Opisthotonus, Hydrocephalus, Spina bifida	OMIM:207950
Darier Disease	Abnormal hair morphology, Subungual hyperkeratotic fragments, Anal mucosal leukoplakia, Abnormali...	ORPHA:218
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, CNS hypomyelination	OMIM:619908
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Delayed CNS myelina...	OMIM:619725
Peho Syndrome	Optic atrophy, Cerebellar atrophy, Seizure, Peripheral dysmyelination, Myoclonus, Neuronal loss i...	OMIM:260565
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Orofaciodigital Syndrome V	Bifid uvula, Optic disc coloboma, Hamartoma of tongue, Ankyloglossia, Aganglionic megacolon, Bifi...	OMIM:174300
Glutaric Acidemia I	Seizure, Symmetrical progressive peripheral demyelination, Rigidity, Opisthotonus, Dystonia, Dela...	OMIM:231670
Ataxia-Telangiectasia	Spasticity, Seizure, Premature graying of hair, Tremor, Multiple cafe-au-lait spots, Ataxia, Hypo...	ORPHA:100
Limited Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Dysphagia, Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Autoimmune Polyendocrinopathy Type 2	Celiac disease, Alopecia, Hypopigmented skin patches	ORPHA:3143
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination	OMIM:616733
Seizures, Benign Familial Infantile, 3	Cyanosis	OMIM:607745
Supranuclear Palsy, Progressive, 2	Neurofibrillary tangles, Postural tremor, Retrocollis, Axial dystonia, Rigidity, Parkinsonism, Gl...	OMIM:609454
Charcot-Marie-Tooth Disease, Type 4B3	Brain atrophy, Onion bulb formation, Myelin outfoldings	OMIM:615284
Phakomatosis Pigmentovascularis	Cerebral cortical atrophy, Generalized hyperpigmentation, Hypopigmented skin patches, Seizure	ORPHA:2875
Spastic Paraplegia 79B, Autosomal Recessive	Optic atrophy, Spastic paraplegia, Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Fasciculat...	OMIM:615491
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Leukonychia, Nail dysplasia, Hyperpigmentation of the skin, Brittle hai...	OMIM:104100
Peroxisome Biogenesis Disorder 11A (Zellweger)	CNS hypomyelination	OMIM:614883
Multiple Sulfatase Deficiency	Spasticity, Cerebellar atrophy, Cerebral atrophy, Peripheral demyelination, CNS demyelination, At...	OMIM:272200
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Basal lamina onion bulb formation, Progressive spastic paraplegia, Loss of eyelashes, Demyelinati...	ORPHA:2821
Glut1 Deficiency Syndrome 2	Seizure, Cerebral atrophy, Tremor, Ataxia, Dystonia, Choreoathetosis	OMIM:612126
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Developmental And Epileptic Encephalopathy 46	Seizure, Cerebral atrophy, Generalized-onset seizure, Tremor, Limb hypertonia, Dysphagia	OMIM:617162
Alg3-Cdg	Hypopigmentation of the skin, Seizure, Spastic tetraparesis, Hypertonia, Dystonia, Subcortical ce...	ORPHA:79321
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Seizure, Ataxia, Hypopigmentation of hair, D...	ORPHA:411511
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Peripheral axonal neuropathy, Tremor, Ataxia	OMIM:619099
Leukodystrophy, Hypomyelinating, 16	Leukodystrophy, Gait ataxia, Intention tremor, Dysmetria, Delayed CNS myelination, Abnormal pyram...	OMIM:617964
Sandhoff Disease	Ataxia, Spasticity, CNS hypomyelination, Fasciculations, Exaggerated startle response, Upper moto...	OMIM:268800
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Hyperkinetic movements, Gliosis, High palate, Upper limb spasticity	ORPHA:457240
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Hypopigmentation of the skin, Decreased number of sweat glands, Dystrop...	ORPHA:69087
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Cleft soft palate, Aganglionic megacolon, Bifid tongue	ORPHA:2919
Seizures, Benign Familial Infantile, 1	Cyanosis	OMIM:601764
Cronkhite-Canada Syndrome	Alopecia, Gastrointestinal carcinoma, Dystrophic toenail, Sparse body hair, Abnormal fingernail m...	ORPHA:2930
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Glossitis, Macroglossia, Hypopigme...	ORPHA:2221
Hyperphosphatasia-Intellectual Disability Syndrome	Highly arched eyebrow, Bifid uvula, Small nail, Anteriorly placed anus, Supernumerary nipple, Myo...	ORPHA:247262
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Multiple Endocrine Neoplasia, Type Iia	Aganglionic megacolon	OMIM:171400
Hengel-Maroofian-Schols Syndrome	Spasticity, Cerebellar atrophy, Cerebral atrophy, Thick eyebrow, Upper motor neuron dysfunction, ...	OMIM:619641
Immunodeficiency 26 With Or Without Neurologic Abnormalities	CNS hypomyelination, Brain atrophy	OMIM:615966
Corticobasal Syndrome	Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax...	ORPHA:454887
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Respiratory failure, Death in infancy	OMIM:618240
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Gait ataxia, Dysmetria, Tremor, Oculomoto...	ORPHA:529665
Hemiparkinsonism-Hemiatrophy Syndrome	Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Cerebral cortical hemiatrophy, Dystonia, Brain a...	ORPHA:306669
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N...	OMIM:245400
Alg2-Cdg	Cerebral hypomyelination	ORPHA:79326
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Progressive cerebellar ataxia, Optic atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Trem...	ORPHA:137898
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Hypopigmentation of the skin, Sparse hair, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Developmental And Epileptic Encephalopathy 17	Cerebral atrophy, Chorea, Delayed CNS myelination, Dystonia, Athetosis	OMIM:615473
Lethal Osteosclerotic Bone Dysplasia	Respiratory failure	ORPHA:1832
Muscular Dystrophy, Congenital, 1B	Facial palsy, Respiratory failure	OMIM:604801
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Aganglionic megacolon, Anal stenosis, Cleft palate	OMIM:614207
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Spasticity, Leukodystrophy, Neurodegeneration, Peripheral demyelination, Progressive spastic quad...	OMIM:619475
Interstitial Pneumonitis, Desquamative, Familial	Cyanosis, Respiratory failure	OMIM:263000
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Spasticity, Gastroesophageal reflux, Generalized dystonia, Seizure, Chorea, Ataxia, Hypopigmentat...	ORPHA:70472
Tay-Sachs Disease	Global brain atrophy, Cerebellar atrophy, Decerebrate rigidity, Laryngeal dystonia, Incoordinatio...	ORPHA:845
Fryns Syndrome	Gastroesophageal reflux, Intestinal malrotation, Aganglionic megacolon, Ectopic anus, Anal atresi...	ORPHA:2059
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ...	ORPHA:254875
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Sensory axonal neuropathy, Bilateral tonic-clonic seizure with focal onset, Myoclo...	ORPHA:254881
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Neurofibrillary tangles, Apraxia, Parkinsonism, Gliosis, Neuronal loss...	OMIM:607485
Parkinson Disease 2, Autosomal Recessive Juvenile	Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel rigidity, Gait a...	OMIM:600116
Charcot-Marie-Tooth Disease, Type 4D	Axonal loss, Segmental peripheral demyelination/remyelination, Frequent falls, Onion bulb formation	OMIM:601455
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Hippocampal atrophy, Limb hypertonia, ...	OMIM:618922
Arthrogryposis Multiplex Congenita 6	Respiratory failure, Death in childhood, Death in infancy, Neonatal death	OMIM:619334
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Cerebral hypomyelination, Delayed myelination, Spasticity	OMIM:616683
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Cerebral cortical atrophy, Myoclonus, Babinski sign, Apraxia, Caudate atrophy, CNS demyelination	OMIM:618193
Dystonia 12	Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia, Dysphagia	OMIM:128235
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Spongiform Encephalopathy With Neuropsychiatric Features	Parkinsonism, Gliosis, Neurofibrillary tangles	OMIM:606688
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Intellectual Developmental Disorder, X-Linked 12	Hyperkinetic movements, Spasticity, Gliosis, Tremor	OMIM:300957
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Sensory axonal neuropathy, Mixed demyelinating and axonal polyneuropathy, Tongue tremor, Fascicul...	ORPHA:466768
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Molybdenum Cofactor Deficiency, Type A	Seizure, Cerebral atrophy, Peripheral demyelination, Opisthotonus, Myoclonic spasms, Axonal loss,...	OMIM:252150
Mohr-Tranebjaerg Syndrome	Dystonia, Abnormal posturing, Tremor	OMIM:304700
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology	ORPHA:85451
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Ileus	OMIM:300352
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Seizure, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Ataxia, Dys...	OMIM:614831
Atypical Juvenile Parkinsonism	Involuntary movements, Resting tremor, Seizure, Myoclonus, Gait ataxia, Rigidity, Dystonia, Abnor...	ORPHA:391411
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Spasticity, Generalized dystonia, Dystonia, Opisthotonus, Parkinsonism, Delayed CNS myelination, ...	OMIM:619653
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Peripheral axonal neuropathy, Vocal cord paralysis, Axonal degeneration, Decreased number of peri...	OMIM:615490
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Seizure, Ocular albinism, ...	OMIM:214500
Hypomelanosis Of Ito	Cerebral atrophy, Alopecia, Seizure, Macular hypopigmented whorls, streaks, and patches	OMIM:300337
Maternal Uniparental Disomy Of Chromosome X	Low posterior hairline, Hypopigmentation of the skin, Seizure	ORPHA:261519
Amyotrophic Lateral Sclerosis 8	Neuronal loss in central nervous system, Amyotrophic lateral sclerosis	OMIM:608627
Leigh Syndrome	Alopecia, Spasticity, Involuntary movements, Cerebellar atrophy, Leukodystrophy, Hypertrichosis, ...	ORPHA:506
Neurodegeneration With Brain Iron Accumulation 8	Tremor, Cerebellar atrophy, Dysmetria, Ataxia	OMIM:617917
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity	OMIM:610297
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Optic atrophy, Cerebellar atrophy, Seizure, Cerebral atrophy, Dysmetria, Tremor, Diffuse cerebral...	OMIM:617710
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Abnormal myelination, Seizure	ORPHA:352682
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Seizure, Bradykinesia, Postural tremor, Rigidity, Clumsiness, Parkinsonism, Bilat...	OMIM:619911
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination	ORPHA:401820
Amyotrophic Lateral Sclerosis	Neurodegeneration, Motor neuron atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Abnormal posturing, Generalized dystonia, Tremor, Torticollis, Writer's cramp, Tor...	OMIM:128100
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Spasticity, Hypopigmented skin patches, White hair, Prem...	ORPHA:381
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Combined Oxidative Phosphorylation Deficiency 14	Cerebral cortical atrophy, Cerebellar atrophy, Cerebral atrophy, Myoclonus, Diffuse cerebral atro...	OMIM:614946
Neurodegeneration With Brain Iron Accumulation 2B	Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Cerebral atrophy, Neurodegeneration, Cho...	OMIM:610217
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Optic atrophy, Intention tremor, Tremor, Cerebellar gliosis, Respiratory failure	OMIM:616505
Xeroderma Pigmentosum, Complementation Group G	Spasticity, Infantile spasms, Tremor, Ataxia	OMIM:278780
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Dystonia, Respiratory failure, Choreoathetosis	OMIM:312170
Hyperphenylalaninemia, Bh4-Deficient, A	Seizure, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykine...	OMIM:261640
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers	OMIM:615376
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Myoclonic seizure, Brain atrophy, Gait ataxia, Myoclonus, Tremor, Bilateral tonic-clonic seizure ...	OMIM:619092
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Central Hypoventilation Syndrome, Congenital, 1	Aganglionic megacolon, Ineffective esophageal peristalsis, Abnormal autonomic nervous system phys...	OMIM:209880
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Spastic tetraplegia, Tetraplegia, Gliosis, Hypertonia	OMIM:608033
Intermediate Nemaline Myopathy	Facial palsy, Facial diplegia, Respiratory failure	ORPHA:171433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Cerebral cortical atrophy, Amyotrophic lateral sclerosis	OMIM:615911
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Gastroesophageal reflux, Cerebral hypomyelination, Lower limb spasticity, Clonus, Hypertonia, Myo...	ORPHA:447997
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Seizure, Cerebral atrophy, Tremor, Ataxia, Dystonia, Dysphagia, Choreoathetosis	OMIM:619422
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Cerebral atrophy, Neurodegeneration, Chorea, Myoclonus, Gait ataxia, Gliosi...	OMIM:618321
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomo...	OMIM:617145
Ane Syndrome	Hyperpigmented nevi, Hyperpigmentation of the skin, Motor neuron atrophy	ORPHA:157954
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Gerstmann-Straussler Disease	Spasticity, Cerebellar atrophy, Neurofibrillary tangles, Limb ataxia, Myoclonus, Gait ataxia, Tre...	OMIM:137440
Neuropathy, Hereditary Sensory, Type Ie	Ataxia, Cerebral atrophy, Decreased number of peripheral myelinated nerve fibers	OMIM:614116
Spinal Muscular Atrophy, Type Iv	Degeneration of anterior horn cells	OMIM:271150
Breath-Holding Spells	Cyanosis	OMIM:607578
Charcot-Marie-Tooth Disease Type 4A	Vocal cord paresis, Chronic axonal neuropathy, Poor gross motor coordination, Demyelinating perip...	ORPHA:99948
Fucosidosis	CNS hypomyelination, Cerebral atrophy, Hemiplegia, Thick eyebrow, Spastic gait, Macroglossia, Dys...	OMIM:230000
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Iris hypopigmentation, High, narrow palate, Hypopigmented skin patches, Hyperpigmentation of the ...	ORPHA:3214
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Spasticity, Dysmetria, Rigidity, Abnormality of extrapyramidal motor function, Babinski...	OMIM:600142
Gm2-Gangliosidosis, Ab Variant	Myoclonic seizure, Seizure, Spastic tetraparesis, Neurodegeneration, Cerebral atrophy, Chorea, Pa...	OMIM:272750
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Optic atrophy, Progressive spastic paraplegia, Decreased number of peripheral myelinated nerve fi...	ORPHA:320406
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Hydrocephalus	OMIM:613603
Down Syndrome	Narrow palate, Macroglossia, Gastroesophageal reflux, Umbilical hernia, Protruding tongue, Agangl...	ORPHA:870
Classic Mycosis Fungoides	Alopecia, Abnormality of the nail, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2584
Duane-Radial Ray Syndrome	Anal stenosis, Aganglionic megacolon, Spina bifida occulta, Anal atresia, Facial palsy	OMIM:607323
Large Congenital Melanocytic Nevus	Generalized hirsutism, Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormalit...	ORPHA:626
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Opisthotonus, Resp...	OMIM:605711
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Cyanosis	ORPHA:91130
Gm2 Gangliosidosis, Ab Variant	Seizure, Cerebral atrophy, Neurodegeneration, Chorea, Progressive spastic quadriplegia, Abnormal ...	ORPHA:309246
Machado-Joseph Disease Type 3	Degeneration of the striatum, Cerebellar atrophy, Spinocerebellar tract degeneration, Substantia ...	ORPHA:276244
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Pigmentary retinopathy, Seizure, Cerebral atrophy, Peripheral demyelination, Infan...	ORPHA:79282
Mitochondrial Complex I Deficiency, Nuclear Type 15	Dystonia, CNS demyelination, Spastic tetraplegia, Cerebellar atrophy	OMIM:618237
Alzheimer Disease 9, Susceptibility To	Cerebral cortical atrophy, Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyra...	OMIM:608907
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Respiratory failure, Respiratory insufficiency	OMIM:615330
Allan-Herndon-Dudley Syndrome	Spastic paraplegia, Leukodystrophy, Babinski sign, Delayed CNS myelination, Clonus, Ataxia, Athet...	OMIM:300523
East Syndrome	Cerebellar atrophy, Seizure, Generalized-onset seizure, Action tremor, Peripheral hypomyelination...	ORPHA:199343
Trigeminal Neuralgia	Peripheral demyelination, CNS demyelination, Cranial nerve compression	ORPHA:221091
Ramos-Arroyo Syndrome	Aganglionic megacolon, Xerostomia, Smooth tongue, Abnormal autonomic nervous system physiology	ORPHA:1051
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Respiratory failure	OMIM:265120
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Optic atrophy, Gastroesophageal reflux, Volvulus, Death in infancy, Aganglionic megacolon, Macrog...	ORPHA:847
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Hypopigmented skin patches, Seizure	ORPHA:1825
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Slc35A2-Cdg	Hypopigmentation of the skin, Gastroesophageal reflux, Cerebellar atrophy, Seizure, Cerebral atro...	ORPHA:356961
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Vomiting, Seizure, Tetraparesis, Frequent falls, Chorea, Cogwheel rigidity, A...	OMIM:607483
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Seizure, Incoordination, Chronic constipation, Tremor, Pontocerebellar atrophy, Oculomotor apraxi...	OMIM:618060
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in infancy, Tremor, Death in adolescence, Jaundice, Respiratory ...	OMIM:615512
Attenuated Chédiak-Higashi Syndrome	Ocular albinism, Incoordination, Abnormality of extrapyramidal motor function, Hypertonia, Genera...	ORPHA:352723
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Axonal regeneration, Decreased number of peripheral myelinated nerve fibers	OMIM:607831
Combined Oxidative Phosphorylation Deficiency 53	Spasticity, CNS hypomyelination	OMIM:619423
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Spasticity, Gastroesophageal reflux, Cerebellar atrophy, Seizure, Tremor, Constipa...	OMIM:617664
Adult-Onset Dystonia-Parkinsonism	Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Neurof...	ORPHA:199351
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Hyperaldosteronism, Familial, Type I	Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level	OMIM:103900
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Ectopic anus, High palate, Anal atresia, Cleft palate	ORPHA:2473
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Cervical myelopathy, Myelopathy, Death in childhood, Tremor, Torticollis, Respiratory failure	OMIM:617186
Carney Complex, Type 1	Multiple lentigines, Schwannoma, Pheochromocytoma, Hirsutism, Freckling, Red hair, Profuse pigmen...	OMIM:160980
Spinocerebellar Ataxia Type 1	Abnormal nerve conduction velocity, Optic atrophy, Abnormality of somatosensory evoked potentials...	ORPHA:98755
Pyruvate Carboxylase Deficiency	CNS hypomyelination, Tremor, Abnormal pyramidal sign, Ataxia, Cerebellar gliosis, Dystonia, Delay...	ORPHA:3008
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Orthostatic hypotension	OMIM:263570
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy	OMIM:619386
Multiple Endocrine Neoplasia, Type Iib	High, narrow palate, Colonic diverticula, High palate, Aganglionic megacolon	OMIM:162300
Infantile-Onset X-Linked Spinal Muscular Atrophy	Abnormal anterior horn cell morphology, Degeneration of anterior horn cells	ORPHA:1145
Autoimmune Polyendocrinopathy Type 1	Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co...	ORPHA:3453
Hereditary Late-Onset Parkinson Disease	Cerebral cortical atrophy, Resting tremor, Frequent falls, Rigidity, Dystonia, Parkinsonism, Park...	ORPHA:411602
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Facial palsy, Respiratory failure	ORPHA:98913
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Poor motor coordination, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, ...	ORPHA:1170
Lissencephaly, X-Linked, 2	High palate, Gliosis, Spasticity	OMIM:300215
Mismatch Repair Cancer Syndrome 1	Hypopigmentation of the skin, Oligodendroglioma, Ependymoma, Adenomatous colonic polyposis, Astro...	OMIM:276300
Combined Oxidative Phosphorylation Defect Type 29	Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Optic n...	ORPHA:478029
Kufor-Rakeb Syndrome	Spastic paraplegia, Spasticity, Seizure, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Pa...	OMIM:606693
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
2,4-Dienoyl-Coa Reductase Deficiency	Spasticity, Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Incoordination, Delayed CNS mye...	OMIM:616034
Goldberg-Shprintzen Syndrome	Highly arched eyebrow, Thick eyebrow, Aganglionic megacolon, Sparse hair, Synophrys	OMIM:609460
Hoyeraal-Hreidarsson Syndrome	Cerebral cortical atrophy, Generalized hypopigmentation of hair, Oral leukoplakia, Premature gray...	ORPHA:3322
Jaberi-Elahi Syndrome	Optic atrophy, Sparse eyebrow, Fine hair, Cerebellar vermis atrophy, Gait ataxia, Dysmetria, Spar...	OMIM:617988
Oculocerebral Hypopigmentation Syndrome, Preus Type	Iris hypopigmentation, White hair, Ocular albinism, Seizure, Generalized hypopigmentation, Ataxia...	ORPHA:2720
Atypical Rett Syndrome	Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Neonatal seizure, Hand ap...	ORPHA:3095
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Global brain atrophy, Amyotrophic lateral sclerosis	OMIM:619132
Hsd10 Disease, Infantile Type	Optic atrophy, Frontotemporal cerebral atrophy, Poor coordination, Seizure, Cerebral atrophy, Neu...	ORPHA:391428
Primary Dystonia, Dyt2 Type	Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T...	ORPHA:99657
X-Linked Dystonia-Parkinsonism	Blepharospasm, Resting tremor, Hand tremor, Progressive extrapyramidal muscular rigidity, Torsion...	ORPHA:53351
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, CNS hypomyelination, Cleft palate, High palate	OMIM:614230
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Onion bulb formation	OMIM:614455
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor...	OMIM:612953
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Tongue fasciculations, Hand tremor, Chronic axonal neuropathy, Decreased number of large peripher...	OMIM:162400
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Limb dystonia, Delayed CNS myelination, Glo...	OMIM:620269
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Oculogyric crisis, Cerebral palsy, Bradykinesia, Seizure, Tremor, Rigidity, Limb hypertonia, Dyst...	ORPHA:70594
Aicardi-Goutieres Syndrome 6	Tremor, Dystonia, Leukodystrophy, Rigidity	OMIM:615010
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Alopecia of scalp, Nail dystrophy, Hypomelanotic macule, Freckling, Hypermelanotic macule	OMIM:618373
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P...	OMIM:607625
Parkinson Disease 23, Autosomal Recessive Early-Onset	Cerebral cortical atrophy, Spasticity, Resting tremor, Neurofibrillary tangles, Limb dystonia, Ri...	OMIM:616840
Marbach-Rustad Progeroid Syndrome	CNS hypomyelination, Intention tremor	OMIM:619322
Mitochondrial Complex I Deficiency, Nuclear Type 21	Babinski sign, Spasticity, Leukodystrophy, Ataxia	OMIM:618242
Ullrich Congenital Muscular Dystrophy	Respiratory failure, Torticollis	ORPHA:75840
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the skin, Conge...	ORPHA:1867
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Spasticity, Cerebellar atrophy, Generalized dystonia, Neurodegeneration, Motor axo...	OMIM:614298
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure	OMIM:616867
Classic Pantothenate Kinase-Associated Neurodegeneration	Pigmentary retinopathy, Abnormal posturing, Generalized dystonia, Opisthotonus, Optic disc pallor	ORPHA:216866
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr...	OMIM:602481
Combined Oxidative Phosphorylation Deficiency 58	Ataxia, Cerebellar atrophy, Myoclonus, Gait ataxia, Appendicular spasticity, CNS demyelination, G...	OMIM:620451
Charcot-Marie-Tooth Disease Type 1B	Peripheral dysmyelination, Peripheral axonal neuropathy	ORPHA:101082
Porphyria Variegata	Hypopigmentation of the skin, Seizure, Hypertrichosis, Tetraparesis, Ileus, Respiratory paralysis...	ORPHA:79473
Late-Infantile/Juvenile Krabbe Disease	Neuromuscular dysphagia, Spastic paraparesis, Hemiplegia, Spastic diplegia, Upper motor neuron dy...	ORPHA:206443
Pitt-Hopkins Syndrome	Gastroesophageal reflux, Hypopigmented skin patches, Supernumerary nipple, Esophagitis, Hiatus he...	ORPHA:2896
Combined Oxidative Phosphorylation Deficiency 4	Opisthotonus, Respiratory failure, Death in infancy	OMIM:610678
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Generalized hyperpigmentation	ORPHA:3339
Infant Acute Respiratory Distress Syndrome	Cyanosis, Hypoxemia, Respiratory failure	ORPHA:70587
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Optic atrophy, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
Myoclonic-Astatic Epilepsy	Frontal balding, Atonic seizure, Generalized non-motor (absence) seizure, Focal-onset seizure, Tr...	ORPHA:1942
Spinocerebellar Ataxia 42	Cerebellar atrophy, Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spast...	OMIM:616795
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Optic atrophy, Pigmentary retinopathy, Spasticity, Global brain atrophy, Neurodege...	OMIM:234200
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Spinocerebellar Ataxia Type 27	Sensory axonal neuropathy, Cerebellar atrophy, Hand tremor, Limb ataxia, Gait ataxia, Tremor, Tru...	ORPHA:98764
Epidermal Nevus Syndrome	Hypopigmentation of the skin, Progressive spastic paraparesis, Babinski sign, Hyperpigmentation o...	ORPHA:35125
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Petechiae, Purpura, Respiratory failure, Vasculitis in the skin	OMIM:620296
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement	Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or...	ORPHA:420485
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Neurodegeneration, Cerebellar atrophy	ORPHA:438134
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Leukodystrophy, Myoclonus, Ataxia, Brain atrophy	OMIM:618225
Muenke Syndrome	High, narrow palate, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Delayed CNS myelination	OMIM:619985
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Pigmentary retinopathy, Cerebellar atrophy, Athetosis, Cerebral atrophy, Chorea, Impaired oral bo...	ORPHA:404454
Leukodystrophy, Hypomyelinating, 3	Spastic paraparesis, Global brain atrophy, Leukodystrophy, Sudanophilic leukodystrophy, Appendicu...	OMIM:260600
Sjogren-Larsson Syndrome	Spasticity, Spastic paraparesis, Abnormal hair morphology, CNS demyelination, Abnormality of the ...	OMIM:270200
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Anal atresia, Rectovaginal fistula	OMIM:236700
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Elevated circulating 21-deoxycortisol concentration, Adrenogenital syndrome, Adrenal hyperplasia	OMIM:201910
Spinocerebellar Ataxia 21	Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Abnormality of ...	OMIM:607454
Dystonia 13, Torsion, Autosomal Dominant	Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula...	OMIM:607671
Familial Hyperaldosteronism Type Ii	Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid...	ORPHA:404
Immunodeficiency 54	Hyperpigmentation of the skin, Respiratory failure, Respiratory insufficiency	OMIM:609981
Xeroderma Pigmentosum, Complementation Group F	Tremor, Numerous pigmented freckles, Freckling, Ataxia, Brain atrophy	OMIM:278760
Familial Hyperaldosteronism Type I	Abnormal circulating renin, Dexamethasone-suppressible primary hyperaldosteronism, Secretory adre...	ORPHA:403
Leukodystrophy, Hypomyelinating, 4	Spastic paraplegia, Leukodystrophy, Babinski sign, Head titubation, Progressive spasticity, Chore...	OMIM:612233
Childhood-Onset Spasticity With Hyperglycinemia	Spastic dysarthria, Leukodystrophy, Myoclonus, Babinski sign, Hypertonia, Ataxia, Progressive spa...	ORPHA:401866
Dentatorubral Pallidoluysian Atrophy	Blepharospasm, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia, Myoclonus, Action...	ORPHA:101
Primary Non-Essential Cutis Verticis Gyrata	Gliosis	ORPHA:357225
Dowling-Degos Disease	Inguinal freckling, Hypermelanotic macule, Abnormal fingernail morphology, Mixed hypo- and hyperp...	ORPHA:79145
Vici Syndrome	Optic atrophy, Cerebral cortical atrophy, Hypopigmentation of the skin, Seizure, Abnormality of r...	ORPHA:1493
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Leukodystrophy, Childhood-Onset, Remitting	Leukodystrophy	OMIM:619864
Leukoencephalopathy With Calcifications And Cysts	Spasticity, Seizure, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia, Focal motor seizure	ORPHA:542310
Benign Familial Infantile Epilepsy	Cyanosis	ORPHA:306
Hermansky-Pudlak Syndrome 11	Albinism, Fair hair, Ocular albinism, Melanocytic nevus, Iris transillumination defect	OMIM:619172
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Highly arched eyebrow, Spasticity, Vomiting, Seizure, Generalized-onset seizure, Peripheral demye...	OMIM:220111
Dyskeratosis Congenita, Autosomal Recessive 3	Oral leukoplakia, Squamous cell carcinoma of the tongue, Nail dystrophy, Abnormality of skin pigm...	OMIM:613988
Hypermanganesemia With Dystonia 2	Spasticity, Cerebellar atrophy, Generalized dystonia, Cerebral atrophy, Limb dystonia, Tremor, An...	OMIM:617013
Dpagt1-Cdg	Cerebral cortical atrophy, Global brain atrophy, CNS hypomyelination, Hypertrichosis, Tremor, Hyp...	ORPHA:86309
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Leukodystrophy, Babinski sign, Ataxia, Dystonia, Dysphagia, Brain atrophy	OMIM:618226
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Spinal dysraphism	ORPHA:175
Acth-Independent Macronodular Adrenal Hyperplasia	Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre...	OMIM:219080
Hyperphenylalaninemia, Bh4-Deficient, B	Seizure, Tremor, Rigidity, Hyperkinetic movements, Limb hypertonia, Dystonia, Dysphagia, Choreoat...	OMIM:233910
Mohr-Tranebjaerg Syndrome	Optic atrophy, Global brain atrophy, Generalized dystonia, Tremor, Ankle clonus, Babinski sign, A...	ORPHA:52368
Leukodystrophy, Progressive, Early Childhood-Onset	Cerebral atrophy, Leukodystrophy, Thick eyebrow, Appendicular spasticity, Dystonia	OMIM:617762
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramida...	ORPHA:96
Fryns Syndrome	Meckel diverticulum, Intestinal malrotation, Aganglionic megacolon, Esophageal atresia, Stillbirt...	OMIM:229850
Bardet-Biedl Syndrome 1	High, narrow palate, Hirsutism, Aganglionic megacolon, Bone spicule pigmentation of the retina, H...	OMIM:209900
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Intestinal bleeding, Spasticity, Oral leukoplakia, Fine hair, Premature graying of hair, Leukodys...	OMIM:612199
Acute Radiation Syndrome	Diarrhea, Vomiting, Hypopigmentation of the skin, Seizure, Hyperpigmentation of the skin	ORPHA:454831
Familial Acute Necrotizing Encephalopathy	Spasticity, Rigidity, Gliosis, Hypertonia, Spastic tetraplegia	ORPHA:88619
Spinocerebellar Ataxia 8	Spasticity, Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Dysphagia, Progr...	OMIM:608768
Asbestos Intoxication	Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Respiratory failure	ORPHA:2302
Spinocerebellar Ataxia, Autosomal Recessive 21	Spasticity, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Tremor, Frequent falls	OMIM:616719
Fanconi Anemia	Irregular hyperpigmentation, Meckel diverticulum, Hypopigmented skin patches, Aplasia/Hypoplasia ...	ORPHA:84
Infantile Krabbe Disease	Optic atrophy, Spasticity, Vomiting, Gastroesophageal reflux, Hypopigmented skin patches, Seizure...	ORPHA:206436
Charcot-Marie-Tooth Disease Type 1F	Demyelinating sensory neuropathy, Mixed demyelinating and axonal polyneuropathy, Hand tremor, Fas...	ORPHA:101085
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Gait ataxia	ORPHA:90103
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure	ORPHA:1861
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Facial palsy, Respiratory failure	OMIM:606612
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Spastic tetraplegia, Resting tremor, Seizure, Tremor, Dystonia, Babinski sign...	OMIM:300055
Myopathy With Extrapyramidal Signs	Optic atrophy, Seizure, Chorea, Tremor, Abnormality of extrapyramidal motor function, Peripheral ...	OMIM:615673
Aicardi-Goutieres Syndrome 4	Spasticity, Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Dystonia	OMIM:610333
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cerebral cortical atrophy, Gastroesophageal reflux, CNS hypomyelination, Breast aplasia, Cleft so...	ORPHA:268261
Cerebrotendinous Xanthomatosis	Ataxia, Spasticity, Spastic paraparesis, Cerebellar atrophy, Resting tremor, Global brain atrophy...	ORPHA:909
Pneumocystosis	Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i...	ORPHA:723
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Opisthotonus, Cyanosis, Tremor	OMIM:250800
Cockayne Syndrome A	Optic atrophy, Pigmentary retinopathy, Dry hair, Cerebellar atrophy, Retinal pigment epithelial m...	OMIM:216400
Aromatic L-Amino Acid Decarboxylase Deficiency	Diarrhea, Gastroesophageal reflux, Oculogyric crisis, Seizure, Tremor, Babinski sign, Constipatio...	ORPHA:35708
Curry-Jones Syndrome	Generalized hirsutism, Intestinal malrotation, Hypopigmented skin patches, Optic disc coloboma	ORPHA:1553
Toriello-Carey Syndrome	Anteriorly placed anus, Aganglionic megacolon, High palate, Cleft palate	ORPHA:3338
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Respiratory failure, Death in childhood	OMIM:615838
Cockayne Syndrome B	Optic atrophy, Pigmentary retinopathy, Dry hair, Seizure, Cerebral atrophy, Peripheral dysmyelina...	OMIM:133540
Cystathioninuria	Seizure, Tremor	ORPHA:212
Parkinson Disease 7, Autosomal Recessive Early-Onset	Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab...	OMIM:606324
Parkinson Disease, Late-Onset	Resting tremor, Tremor, Substantia nigra gliosis, Rigidity, Dystonia, Parkinsonism, Neuronal loss...	OMIM:168600
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Spastic paraparesis, Oral-pharyngeal dysphagia, Facial diplegia, Decreased number ...	ORPHA:254930
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De...	ORPHA:90793
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Jaundice, Respiratory failure	OMIM:250940
Snakebite Envenomation	Erythema, Respiratory failure, Angioedema, Ecchymosis	ORPHA:449285
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Spina bifida occulta, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Parkinson Disease 17	Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:614203
Congenital Disorder Of Deglycosylation 1	Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Myoclonus, Action tremor, Dysmetria, Hy...	OMIM:615273
Glutathionuria	Constipation, Dysdiadochokinesis, Action tremor, Tremor	OMIM:231950
Combined Oxidative Phosphorylation Deficiency 13	Dystonia, Choreoathetosis, Leukodystrophy	OMIM:614932
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis	ORPHA:2004
Tricuspid Atresia	Cyanosis	ORPHA:1209
Early-Onset Autosomal Dominant Alzheimer Disease	Cerebral cortical atrophy, Neurofibrillary tangles, Myoclonus, Parkinsonism, Oculomotor apraxia, ...	ORPHA:1020
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Diabetes mellitus, Increased circulating cortisol level, Adrenal hyperp...	OMIM:615830
22Q11.2 Deletion Syndrome	Optic atrophy, Gastrointestinal hemorrhage, Gastroesophageal reflux, Umbilical hernia, Intestinal...	ORPHA:567
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Abnormal CNS myelination, Progressive spastic paraplegia	ORPHA:521390
Xeroderma Pigmentosum, Complementation Group B	Pigmentary retinopathy, Cerebellar atrophy, Freckling, Ataxia, Abnormal CNS myelination	OMIM:610651
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Idiopathic Camptocormia	Cerebral atrophy, Myelitis, Syringomyelia, Amyotrophic lateral sclerosis	ORPHA:1320
Hermansky-Pudlak Syndrome 4	Albinism, Ocular albinism	OMIM:614073
Spontaneous Periodic Hypothermia	Diarrhea, Seizure, Tremor, Ataxia	ORPHA:29822
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Respiratory failure	ORPHA:444013
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis, Cleft pa...	OMIM:154400
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Cerebral atrophy, Tremor, Dysmetria, Ataxia, Titubation	OMIM:619405
Adult Acute Respiratory Distress Syndrome	Hypoxemia, Abnormal blood gas level, Respiratory failure	ORPHA:70578
Surfactant Metabolism Dysfunction, Pulmonary, 3	Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory...	OMIM:610921
Hartnup Disease	Irregular hyperpigmentation, Hypopigmented skin patches, Seizure, Ataxia	ORPHA:2116
Waardenburg Syndrome, Type 1	Premature graying of hair, Partial albinism, Thick eyebrow, White forelock, Heterochromia iridis,...	OMIM:193500
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenogenital syndrome, Adrenal hyperplasia	OMIM:202110
Leukodystrophy, Hypomyelinating, 13	Spasticity, Leukodystrophy, Delayed CNS myelination, Clonus, Lower limb spasticity, Hypertonia, A...	OMIM:616881
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Paronychia, Gastroesophageal reflux, Decreased number of peripheral myelinated nerve fibers	OMIM:201300
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp...	OMIM:608647
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cerebral cortical atrophy, Spasticity, Small nail, Lower limb spasticity, Gliosis, Abnormality of...	OMIM:300868
Mitochondrial Complex I Deficiency, Nuclear Type 10	Optic atrophy, Respiratory failure	OMIM:618233
Smith-Lemli-Opitz Syndrome	Optic atrophy, Gastroesophageal reflux, Microglossia, Aganglionic megacolon, Bifid tongue, Holopr...	ORPHA:818
Amyloidosis, Hereditary Systemic 1	Spasticity, Diarrhea, Spastic paraparesis, Seizure, Paraplegia, Limb ataxia, Tremor, Hemiparesis,...	OMIM:105210
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Ganglioneuromatosis, Neoplasm of the liver, Abnormal tongue morphology	ORPHA:653
Dystonia 2, Torsion, Autosomal Recessive	Blepharospasm, Tremor, Torticollis, Torsion dystonia, Dysphagia	OMIM:224500
De Sanctis-Cacchione Syndrome	Spasticity, Global brain atrophy, Leukodystrophy, Cerebral atrophy, Axonal degeneration, Babinski...	OMIM:278800
Acro-Renal-Ocular Syndrome	Aganglionic megacolon, Optic disc coloboma	ORPHA:959
Squalene Synthase Deficiency	Constipation, Seizure, Abnormality of hair pigmentation, Optic nerve hypoplasia	OMIM:618156
Buerger Disease	Livedo reticularis, Acrocyanosis	ORPHA:36258
Hypoadrenocorticism, Familial	Cyanosis, Abnormality of skin pigmentation	OMIM:240200
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Alg1-Cdg	Respiratory failure	ORPHA:79327
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Neurodegeneration, Delayed CNS myelination, Seizure	OMIM:620210
Maternal Uniparental Disomy Of Chromosome 6	Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Miscarriage	ORPHA:96181
Early Infantile Epileptic Encephalopathy	Spasticity, Cerebellar atrophy, Generalized non-motor (absence) seizure, Episodic ataxia, Seizure...	ORPHA:1934
Hermansky-Pudlak Syndrome 8	Silver-gray hair, Ocular albinism, Iris transillumination defect, Blue irides, Generalized hypopi...	OMIM:614077
Leukodystrophy, Hypomyelinating, 24	Cerebral atrophy, Tongue fasciculations, Leukodystrophy	OMIM:619851
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Postural tremor, Myoclonus, Babinski s...	OMIM:301072
Intellectual Developmental Disorder, Autosomal Recessive 78	Hypopigmentation of the skin, Optic neuropathy, Febrile seizure (within the age range of 3 months...	OMIM:620237
Crouzon Syndrome	Narrow palate, Optic atrophy, Melanocytic nevus, Hypopigmented skin patches	ORPHA:207
Wolfram Syndrome 1	Optic atrophy, Pigmentary retinopathy, Seizure, Cerebral atrophy, Tremor, Ataxia, Dysphagia	OMIM:222300
Cockayne Syndrome	Pigmentary retinopathy, Dry hair, Gastroesophageal reflux, Spasticity, Fine hair, Cerebral atroph...	ORPHA:191
Chédiak-Higashi Syndrome	Iris hypopigmentation, Spastic paraplegia, Hypopigmentation of the skin, Cerebellar atrophy, Spot...	ORPHA:167
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Highly arched eyebrow, Narrow palate, Spasticity, Spastic tetraparesis, Long eyelashes, Dystonia,...	OMIM:620371
Obesity-Hypoventilation Syndrome	Cyanosis	OMIM:257500
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Gastrointestinal hemorrhage, Hypopigmentation of the skin, Ocular albinism...	ORPHA:79430
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Dystonia, Spasticity, Leukodystrophy, Ataxia	OMIM:619224
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	High palate, Hypopigmentation of the skin, Brittle hair	OMIM:236200
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Dysdiadochokinesis, Cerebellar atrophy, Seizure, Peripheral hypomyelination, Chronic axonal neuro...	OMIM:612780
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Respiratory failure, Death in infancy	ORPHA:1194
Spinocerebellar Ataxia Type 21	Cerebellar vermis atrophy, Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rig...	ORPHA:98773
Autosomal Recessive Spastic Paraplegia Type 55	Optic atrophy, Spasticity, Spastic paraparesis, Babinski sign, Lower limb spasticity, Optic neuro...	ORPHA:320375
Schinzel-Giedion Syndrome	Anteriorly placed anus, Umbilical hernia, Aganglionic megacolon, Hepatoblastoma, Macroglossia, Hi...	ORPHA:798
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Hypopigmented skin patches, Seizure, Generalized-onset seizure, Curly hair, Cafe-au-lait spot, Fo...	ORPHA:457485
Down Syndrome	Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Macroglossia, Anal atresia	OMIM:190685
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Pontocerebellar atroph...	OMIM:606002
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Hypoxemia, Cyanosis	ORPHA:2257
Sézary Syndrome	Alopecia, Irregular hyperpigmentation, Nail dystrophy, Tremor	ORPHA:3162
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Cerebellar atrophy, Seizure, Gait ataxia, Dysmetria, Tremor, Limb hypertonia,...	OMIM:618056
Laryngeal Abductor Paralysis	Cyanosis	OMIM:150260
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	CNS hypomyelination, Spastic tetraplegia	OMIM:619306
Congenital Fibrinogen Deficiency	Subcutaneous hemorrhage, Cyanosis, Opisthotonus, Bruising susceptibility	ORPHA:335
Encephalopathy, Ethylmalonic	Acrocyanosis, Petechiae, Death in infancy	OMIM:602473
Familial Hyperaldosteronism Type Iii	Abnormal circulating renin, Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldoster...	ORPHA:251274
Multiple Sclerosis, Susceptibility To	Incoordination, Spasticity, CNS demyelination	OMIM:126200
Atypical Progressive Supranuclear Palsy Syndrome	Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ...	ORPHA:99750
Meconium Ileus	Microcolon, Meconium ileus	OMIM:614665
Porphyria Cutanea Tarda	Hypopigmentation of the skin, Hypertrichosis, Hirsutism, Hyperpigmentation of the skin, Increased...	ORPHA:101330
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Palmoplantar cutis laxa, Respiratory failure, Hydrocephalus, Neonatal death	OMIM:616482
Cerebral Visual Impairment	Optic atrophy, Central nervous system degeneration, Cerebral palsy, Seizure, Neurodegeneration, C...	ORPHA:447788
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Smith-Lemli-Opitz Syndrome	Bifid uvula, Gastroesophageal reflux, Microglossia, Intestinal malrotation, Aganglionic megacolon...	OMIM:270400
Mitochondrial Neurogastrointestinal Encephalomyopathy	Diarrhea, Gastroesophageal reflux, Vomiting, Peripheral axonal neuropathy, Demyelinating peripher...	ORPHA:298
Acute Interstitial Pneumonia	Cyanosis, Hypoxemia, Respiratory failure	ORPHA:79126
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Nail dystrophy, Hirsutism, Low posterior hairline, Spotty hypopigmentation, ...	OMIM:300860
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Cerebral cortical neurodegeneration, Astrocyt...	OMIM:203700
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Combined Oxidative Phosphorylation Deficiency 3	Optic atrophy, Respiratory insufficiency, Death in childhood, Death in infancy, Tremor, Dystonia,...	OMIM:610505
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Dystonia, Acrocyanosis, Intention tremor	OMIM:614407
Congenital Pulmonary Lymphangiectasia	Cyanosis	ORPHA:2414
Xeroderma Pigmentosum, Complementation Group C	Hypopigmentation of the skin, Freckling	OMIM:278720
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Hypopigmentation of the skin, Smooth tongue, Nail dystrophy, Generalized reticulate bro...	ORPHA:79396
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Hereditary Motor And Sensory Neuropathy, Type Iic	Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Spastic Paraplegia 9B, Autosomal Recessive	Spastic paraplegia, Spasticity, Cerebral cortical atrophy, Pseudobulbar paralysis, Tremor, Babins...	OMIM:616586
Niemann-Pick Disease, Type C1	Spasticity, Neurofibrillary tangles, Cataplexy, Gait ataxia, Neuronal loss in central nervous sys...	OMIM:257220
Acute Lung Injury	Hypoxemia, Respiratory failure	ORPHA:178320
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Macroglossia, High palate, CNS hypomyelination	OMIM:614501
Kleefstra Syndrome Due To A Point Mutation	Anal atresia, Gastroesophageal reflux, Gliosis	ORPHA:261652
Wiedemann-Rautenstrauch Syndrome	Aplasia/Hypoplasia of the nails, Pigmentary retinopathy, Spasticity, CNS hypomyelination, Leukody...	ORPHA:3455
Galloway-Mowat Syndrome 1	Optic atrophy, Spasticity, Hypopigmentation of the skin, Cerebellar atrophy, Small nail, Seizure,...	OMIM:251300
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure	OMIM:620326
Den Hoed-De Boer-Voisin Syndrome	Spasticity, Gastroesophageal reflux, Global brain atrophy, Focal myoclonic seizure, Generalized n...	OMIM:619229
Deafness-Lymphedema-Leukemia Syndrome	Bruising susceptibility, Respiratory failure	ORPHA:3226
X-Linked Cerebral Adrenoleukodystrophy	Global brain atrophy, Limb myoclonus, Dysmetria, Hemiparesis, Ankle clonus, Hoffmann sign, Diffus...	ORPHA:139396
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Respiratory failure, Tremor, Exaggerated startle response	OMIM:620327
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells	OMIM:271225
Hermansky-Pudlak Syndrome 7	Albinism, Ocular albinism	OMIM:614076
Brain Dopamine-Serotonin Vesicular Transport Disease	Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy...	ORPHA:352649
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Pigmentary retinopathy, Death in childhood, Respiratory insufficiency due to muscl...	OMIM:220110
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis, Neonatal death	OMIM:619817
Hermansky-Pudlak Syndrome 10	Cerebral atrophy, Ocular albinism, Delayed CNS myelination, Albinism, Dystonia	OMIM:617050
Boutonneuse Fever	Petechiae, Respiratory failure	ORPHA:83313
Acrofrontofacionasal Dysostosis	Hypopigmented skin patches, Anonychia, Aplasia/Hypoplasia of the eyebrow, High palate, Brushfield...	ORPHA:1784
Alternating Hemiplegia Of Childhood	Diarrhea, Oral-pharyngeal dysphagia, Tetraparesis, Abnormal pyramidal sign, Ataxia, Focal motor s...	ORPHA:2131
Neuromuscular Oculoauditory Syndrome	Sensory axonal neuropathy, Retinal pigment epithelial mottling, Infantile spasms, Peripheral hypo...	OMIM:618733
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Hypopigmentation of the skin, Seizure	OMIM:163200
High Altitude Pulmonary Edema	Hypoxemia, Cyanosis	ORPHA:330012
Choreoacanthocytosis	Resting tremor, Limb dystonia, Peripheral axonal neuropathy, Parkinsonism, Frontal cortical atrop...	ORPHA:2388
Glycine Encephalopathy With Normal Serum Glycine	Optic atrophy, Respiratory failure, Exaggerated startle response	OMIM:617301
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Congenital adren...	ORPHA:90791
Hyperaldosteronism, Familial, Type Iii	Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level	OMIM:613677
Severe Oculo-Renal-Cerebellar Syndrome	Optic atrophy, Spasticity, Hypopigmented skin patches, Abnormality of retinal pigmentation, Chore...	ORPHA:2715
Laryngotracheal Angioma	Cyanosis	ORPHA:137935
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Tetraparesis, Action tremor, Abnormal pyramidal sign, Clonus, Ataxia, Dysphagia, Dysm...	ORPHA:99027
Benign Familial Neonatal Epilepsy	Circumoral cyanosis	ORPHA:1949
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Congenital Heart Block	Cyanosis	ORPHA:60041
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Macronodular adrenal ...	OMIM:615954
Charcot-Marie-Tooth Disease Type 4C	Optic atrophy, Tongue fasciculations, Vocal cord paresis, Facial paralysis, Cerebellar atrophy, H...	ORPHA:99949
Avian Influenza	Hypoxemia, Respiratory failure, Miscarriage	ORPHA:454836
Intellectual Disability And Myopathy Syndrome	Spotty hypopigmentation, Cafe-au-lait spot	OMIM:619719
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Partial albinism, Perineal fistula, Iris transillu...	OMIM:614075
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Optic atrophy, Spasticity, Seizure, Neurodegeneration, Long eyelashes, Focal-onset seizure, Rigid...	OMIM:618476
Pyruvate Carboxylase Deficiency	Athetosis, Clonus, Leukodystrophy	OMIM:266150
Mercury Poisoning	Dystonia, Respiratory failure, Tremor	ORPHA:330021
Congenital Tricuspid Valve Dysplasia	Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:555874
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Alopecia, Hypoplastic fingernail, Abnormal hair morphology, Hyperconvex fingernails, Thin eyebrow...	ORPHA:2273
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure	OMIM:603689
Severe Congenital Nemaline Myopathy	Facial palsy, Facial diplegia, Respiratory failure	ORPHA:171430
Cleft Larynx, Posterior	Cyanosis	OMIM:215800
Epilepsy, Familial Adult Myoclonic, 2	Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia	OMIM:607876
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Melanocytic nevus, Abnormality of retinal pigmentation, Short hard palate, Multiple cafe-au-lait ...	ORPHA:1969
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Optic atrophy, Poor coordination, Oral-pharyngeal dysphagia, Seizure, Neurodegeneration, Cerebral...	OMIM:616878
Glutaryl-Coa Dehydrogenase Deficiency	Poor motor coordination, Seizure, Chorea, Infantile spasms, Limb dystonia, Pallidal degeneration,...	ORPHA:25
Porphyria, Congenital Erythropoietic	Alopecia, Hypopigmentation of the skin, Hypertrichosis, Loss of eyelashes, Hyperpigmentation of t...	OMIM:263700
Sporadic Infantile Bilateral Striatal Necrosis	Dystonia, Resting tremor, Titubation, Abnormal posturing	ORPHA:225147
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hyperaldosteronism, Abnormal circulating renin, Adrenal hyperplasia	ORPHA:369929
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Abnormal CNS myelination	OMIM:611555
Acquired Methemoglobinemia	Hypoxemia, Cyanosis	ORPHA:464453
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Spasticity, Cerebellar atrophy, Cerebral atrophy, Brittle hair, Delayed CNS myelination, Gliosis,...	OMIM:124000
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of the skin, Parietal cortica...	ORPHA:98754
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory failure	ORPHA:2759
Niemann-Pick Disease Type C	Leukodystrophy, Speech apraxia, Limb dystonia, Axial dystonia, Frontal cortical atrophy, Abnormal...	ORPHA:646
Marchiafava-Bignami Disease	Tetraparesis, Gait ataxia, Hemiparesis, Rigidity, Apraxia, Abnormal pyramidal sign, CNS demyelina...	ORPHA:221074
Gabriele-De Vries Syndrome	Sparse eyebrow, Oral-pharyngeal dysphagia, Breast hypoplasia, Frontal upsweep of hair, Tremor, Dy...	ORPHA:506358
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Seizure, Cerebral atrophy, Limb dystonia, Dysmetria, Tremor, Multifocal seizu...	ORPHA:572798
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o...	ORPHA:95699
Schilder Disease	Ataxia, CNS demyelination, Ankle clonus	ORPHA:59298
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis, Cardiorespiratory arrest, Respiratory failure	ORPHA:26791
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Seizure, Myoclonus, Tremor, Diffuse cerebral atrophy, Right hemiplegia, Episo...	OMIM:607426
Gaba-Transaminase Deficiency	Leukodystrophy	OMIM:613163
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Neonatal death, Respiratory arrest, Tremor, Jaundice, Dystonia, Respiratory fai...	OMIM:617248
Osteopetrosis, Autosomal Recessive 5	Optic atrophy, Hydrocephalus, Stillbirth, Optic disc pallor, Facial palsy, Respiratory failure	OMIM:259720
Tetrasomy 5P	Cyanosis, Depigmentation/hyperpigmentation of skin, Hydrocephalus	ORPHA:3309
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Meckel Syndrome 14	Cardiorespiratory arrest, Holoprosencephaly, Occipital encephalocele, Cyanosis	OMIM:619879
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure	OMIM:620166
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral myelination, Abnormal peripheral nerve morphology by anatomical site	ORPHA:168563
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of the skin, Parietal cortica...	ORPHA:98793
Congenital Multicore Myopathy With External Ophthalmoplegia	Facial palsy, Facial diplegia, Respiratory failure	ORPHA:98905
Syndromic Diarrhea	Trichorrhexis nodosa, Villous atrophy, Hepatoblastoma, Gastritis, Uncombable hair, Generalized hy...	ORPHA:84064
Sandestig-Stefanova Syndrome	Respiratory failure	OMIM:618804
Cryptogenic Organizing Pneumonia	Hypoxemia, Cyanosis	ORPHA:1302
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of the skin, Parietal cortica...	ORPHA:177904
Parkinson-Dementia Syndrome	Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity	OMIM:260540
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Iris hypopigmentation, Occipital cortical atrophy, Hypopigmentation of the skin, Parietal cortica...	ORPHA:177901
Peroxisome Biogenesis Disorder 4A (Zellweger)	Respiratory failure, Death in infancy	OMIM:614862
Canavan Disease	Opisthotonus, Abnormal pyramidal sign, CNS demyelination, Brain atrophy	OMIM:271900
Aceruloplasminemia	Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Abnormality of retinal pi...	ORPHA:48818
Surfactant Metabolism Dysfunction, Pulmonary, 2	Cyanosis, Hypoxemia, Respiratory failure, Respiratory insufficiency	OMIM:610913
Incontinentia Pigmenti	Cerebral cortical atrophy, Alopecia, Ridged fingernail, Irregular hyperpigmentation, Hypopigmente...	ORPHA:464
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Gastroesophageal reflux, Cerebellar atrophy, Leukodystrophy, Cerebral atrophy, Thick eyebrow, Del...	OMIM:615471
Congenital Myasthenic Syndrome	Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Fr...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Fr...	ORPHA:98914
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Respiratory failure, Hydrocephalus	ORPHA:244
Staphylococcal Necrotizing Pneumonia	Hypoxemia, Respiratory failure	ORPHA:36238
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Aplastic/hypoplastic toenail, Hypopigmented skin patches, Synophrys	ORPHA:1295
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Opisthotonus, Cyanosis	ORPHA:3304
Myopathy, Mitochondrial, And Ataxia	Pigmentary retinopathy, Limb ataxia, Dysmetria, Tremor, Thick hair, Ataxia, Truncal ataxia, High ...	OMIM:617675
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Cyanosis	OMIM:261680
Oculocerebrocutaneous Syndrome	Alopecia, Hypopigmented skin patches, Seizure, Abnormal fingernail morphology, Hemiplegia/hemipar...	ORPHA:1647
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Leukodystrophy, Limb ataxia, Gait ataxia, Ataxia, Intention tremor	OMIM:614871
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Facial diplegia, Intercostal muscle weakness, Respiratory insuffic...	ORPHA:70
Papillon-Lefèvre Syndrome	Hypopigmented skin patches, Sparse body hair, Abnormal fingernail morphology, Hypertrichosis, Nai...	ORPHA:678
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Corpus callosum atrophy, Gliosis, High palate, Cerebral dysmyelination	OMIM:261515
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Xerostomia, Seizure	ORPHA:398079
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Hypohidrotic Ectodermal Dysplasia	Generalized hypopigmentation of hair, Irregular hyperpigmentation, Xerostomia, Breast aplasia, Tr...	ORPHA:238468
Ataxia-Telangiectasia	Progressive cerebellar ataxia, Dysdiadochokinesis, Seizure, Abnormal hair morphology, Myoclonus, ...	OMIM:208900
3-Methylglutaconic Aciduria Type 7	Opisthotonus, Respiratory failure, Choreoathetosis	ORPHA:445038
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hypoglycemic seizures, Red hair	OMIM:609734
Congenital Myopathy 10B, Mild Variant	Respiratory failure	OMIM:620249
Bohring-Opitz Syndrome	Gastroesophageal reflux, Seizure, Supernumerary nipple, Hypertrichosis, Low anterior hairline, De...	OMIM:605039
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Localized Scleroderma	Gastroesophageal reflux, Hypopigmented skin patches, Abnormal skin adnexa morphology, Seizure, Vi...	ORPHA:90289
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Neuromuscular dysphagia, Progressive extrapyramidal muscular rigidity, Axial dysto...	ORPHA:240071
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Respiratory failure	ORPHA:542323
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency	OMIM:609015
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Leukodystrophy, Dystonia, Progressive spastic quadriplegia, Nonprogressive ce...	ORPHA:431361
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing	OMIM:614857
Harrod Syndrome	Cerebral cortical atrophy, Hypopigmented skin patches, Seizure	ORPHA:2115
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Neonatal respiratory distress, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:608836
Congenital Bile Acid Synthesis Defect Type 4	Hematochezia, Pigmentary retinopathy, Seizure, Tremor, Ataxia	ORPHA:79095
Oculocerebrofacial Syndrome, Kaufman Type	Optic atrophy, Respiratory failure	ORPHA:2707
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina...	ORPHA:189427
Bloom Syndrome	Hypopigmentation of the skin, Gastroesophageal reflux, Neoplasm of the colon, Stomach cancer, Rec...	ORPHA:125
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Albinism, Ocular albinism	OMIM:614074
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Chronic Pneumonitis Of Infancy	Hypoxemia, Cyanosis	ORPHA:91359
Asparagine Synthetase Deficiency	Gastroesophageal reflux, Global brain atrophy, Seizure, Tremor, Caudate atrophy, Clonus, Limb hyp...	OMIM:615574
12Q14 Microdeletion Syndrome	Intestinal malrotation, Thick eyebrow, Tremor, Hyperpigmentation of the skin, Synophrys	ORPHA:94063
Mucopolysaccharidosis, Type Ii	Diarrhea, Seizure, Hypertrichosis, Neurodegeneration, Abnormality of retinal pigmentation, Papill...	OMIM:309900
Hermansky-Pudlak Syndrome 2	Gastroesophageal reflux, Fair hair, Ocular albinism, Aberrant melanosome maturation, Generalized ...	OMIM:608233
Trichohepatoenteric Syndrome 1	Sparse hair, Bifid uvula, Fine hair, Trichorrhexis nodosa, Villous atrophy, Curly hair, Generaliz...	OMIM:222470
Mosaic Trisomy 8	High palate, Hypopigmentation of the skin, Hypopigmented skin patches, Cleft palate	ORPHA:96061
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure	OMIM:617895
Ruvalcaba Syndrome	Generalized hirsutism, Hypopigmented skin patches, Seizure	ORPHA:3121
Bardet-Biedl Syndrome	Inflammation of the large intestine, Aganglionic megacolon, Abnormality of the gastrointestinal t...	ORPHA:110
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Respiratory insufficiency	ORPHA:159
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Iris transillumination defect, Generalized hypopigmentation	OMIM:617306
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Alopecia, Subungual hyperkeratosis, Atrichia, Nail dystrophy, Absent eyelashes, Nail dysplasia, D...	OMIM:308205
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Xerostomia, Gastroesophageal reflux, Seizure, Chronic constipation,...	ORPHA:398069
Restrictive Dermopathy 2	Cyanosis	OMIM:619793
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:613845
Multiple Mitochondrial Dysfunctions Syndrome 7	Dystonia, Cyanosis, Exaggerated startle response, Respiratory failure requiring assisted ventilation	OMIM:620423
Dyskeratosis Congenita	Alopecia, Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal fingernail ...	ORPHA:1775
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Muscular Dystrophy, Duchenne Type	Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:310200
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Cyanosis, Death in infancy, Optic disc pallor, Optic neuropathy, Respi...	OMIM:252010
Tyrosinemia Type 2	Seizure, Abnormality of the nail, Tremor, Ataxia	ORPHA:28378
Parkinson Disease 20, Early-Onset	Cerebral cortical atrophy, Involuntary movements, Tremor, Rigidity, Dystonia, Parkinsonism, Brady...	OMIM:615530
Idiopathic Pulmonary Fibrosis	Orthodeoxia, Acrocyanosis	ORPHA:2032
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Hydrocephalus	OMIM:616538
Hypermanganesemia With Dystonia 1	Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa...	OMIM:613280
Aicardi-Goutieres Syndrome 5	Spasticity, Leukodystrophy	OMIM:612952
X-Linked Agammaglobulinemia	Alopecia, Glossoptosis, Hypopigmented skin patches	ORPHA:47
Metachromatic Leukodystrophy, Adult Form	Spasticity, Decerebrate rigidity, Leukodystrophy, Chorea, Progressive spastic quadriplegia, Babin...	ORPHA:309271
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyperactive renin-angiotensin system, Abnormal circulating androgen level, Increased circulating ...	ORPHA:90790
Mitochondrial Complex I Deficiency, Nuclear Type 2	Dystonia, Gliosis, Ankle clonus	OMIM:618222
Idiopathic Pulmonary Hemosiderosis	Respiratory failure	ORPHA:99931
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Respiratory insufficiency, Astrocytosis, Intercostal muscle weakness, Facial palsy, Respiratory f...	ORPHA:258
O'Sullivan-Mcleod Syndrome	Atrophy of the spinal cord, Tremor, Fasciculations	ORPHA:99965
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Cerebral cortical atrophy, Hypopigmentation of the skin, Seizure, Hyperpig...	ORPHA:177907
Rothmund-Thomson Syndrome	Sparse eyebrow, Hypopigmentation of the skin, Small nail, Alopecia totalis, Reticular hyperpigmen...	ORPHA:2909
Prader-Willi Syndrome	Hypopigmentation of the skin, Xerostomia, Vomiting, Seizure, Gastroparesis, Hypopigmentation of hair	ORPHA:739
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Elevated circulating 17-hydroxyprogesterone concentration, Adrenal insufficiency, Impaired cortis...	OMIM:201810
Combined Oxidative Phosphorylation Deficiency 37	Optic atrophy, Respiratory failure, Respiratory insufficiency	OMIM:618329
Insensitivity To Pain, Congenital, With Anhidrosis	Decreased number of small peripheral myelinated nerve fibers, Nail dysplasia, Nail dystrophy, Spa...	OMIM:256800
Metachromatic Leukodystrophy, Juvenile Form	Spasticity, Decerebrate rigidity, Leukodystrophy, Babinski sign, Progressive gait ataxia, Clumsin...	ORPHA:309263
Alexander Disease	Spasticity, Seizure, Chorea, Tremor, Constipation, Abnormal pyramidal sign, Clonus, Tetraplegia, ...	ORPHA:58
Aicardi-Goutieres Syndrome 1	Erythema, Petechiae, Purpura, Prolonged neonatal jaundice, Dystonia, Acrocyanosis	OMIM:225750
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Spasticity, Neurodegeneration, Hirsutism, Gliosis, Hypertonia, Spastic tetraparesis, Dysphagia, S...	OMIM:620455
Mowat-Wilson Syndrome	Abnormal enteric ganglion morphology, Submucous cleft hard palate, Aganglionic megacolon, Cleft p...	OMIM:235730
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous...	ORPHA:79138
Bloom Syndrome	Spotty hypopigmentation, Hypopigmentation of the skin, Cafe-au-lait spot, Hypertrichosis	OMIM:210900
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Abnormal myelination, Seizure	OMIM:617333
Vici Syndrome	Hypopigmentation of the skin, Ocular albinism, Median cleft palate, High palate, Albinism, Hypopi...	OMIM:242840
Hyperglycinemia, Lactic Acidosis, And Seizures	Cerebral atrophy, Myoclonus, Spastic tetraplegia, Leukodystrophy	OMIM:614462
Tremor, Nystagmus, And Duodenal Ulcer	Kinetic tremor, Duodenal ulcer, Tremor	OMIM:190310
Hyperlysinemia	Poor motor coordination, Vomiting, Gastroesophageal reflux, Seizure, Thin eyebrow, Dysmetria, Tre...	ORPHA:2203
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Spasticity, Ocular albinism, Abnormality of extrapyramidal motor function,...	ORPHA:2719
Waardenburg Syndrome Type 3	Acrocyanosis, White hair	ORPHA:896
Sandifer Syndrome	Abnormal posturing, Torticollis	ORPHA:71272
Pyruvate Dehydrogenase E2 Deficiency	Arm dystonia, Neurodegeneration, Speech apraxia, Paroxysmal dystonia, Babinski sign, Hypertonia	ORPHA:79244
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Neonatal death	OMIM:619362
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency	ORPHA:746
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Brain-Lung-Thyroid Syndrome	Neonatal respiratory distress, Intention tremor, Dystonia, Respiratory failure, Choreoathetosis	ORPHA:209905
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Anal stenosis, Anteriorly placed anus, ...	OMIM:604292
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Hypoxemia	ORPHA:860
Pulmonary Alveolar Proteinosis, Acquired	Hypoxemia, Cyanosis	OMIM:610910
Mednik Syndrome	Microcolon, Volvulus, Jejunal atresia, Neonatal death	OMIM:609313
Xeroderma Pigmentosum	Optic atrophy, Alopecia, Spasticity, Cerebral cortical atrophy, Hypopigmented skin patches, Seizu...	ORPHA:910
Rothmund-Thomson Syndrome Type 1	Hypopigmentation of the skin, Alopecia totalis, Functional abnormality of the gastrointestinal tr...	ORPHA:221008
Rothmund-Thomson Syndrome Type 2	Hypopigmentation of the skin, Alopecia totalis, Functional abnormality of the gastrointestinal tr...	ORPHA:221016
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Gastroesophageal reflux, Sparse lateral eyebrow, Gait ataxia, Cerebral hypomyelination, Cleft palate	ORPHA:513456
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	OMIM:231680
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Precocious puberty in males, Congenital adrenal hyperplasia, Decreased testicular size, Increased...	OMIM:202010
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Mitochondrial Complex I Deficiency, Nuclear Type 32	Patent urachus, Respiratory failure, Death in childhood	OMIM:618252
Scedosporiosis	Respiratory failure	ORPHA:449280
Metachromatic Leukodystrophy, Late Infantile Form	Spasticity, Decerebrate rigidity, Leukodystrophy, Gait ataxia, Babinski sign, Progressive gait at...	ORPHA:309256
Joubert Syndrome 21	Optic atrophy, Occipital encephalocele, Encephalocele, Megalopapilla, Respiratory failure	OMIM:615636
Dermatoleukodystrophy	Leukodystrophy	OMIM:221790
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc...	ORPHA:308552
Eosinophilic Granulomatosis With Polyangiitis	Hypopigmented skin patches, Respiratory insufficiency, Cutis marmorata, Purpura, Acrocyanosis, Ur...	ORPHA:183
Isolated Right Ventricular Hypoplasia	Hypoxemia, Cyanosis	ORPHA:439
Poliomyelitis	Abnormal motor nerve conduction velocity, Respiratory failure, Respiratory failure requiring assi...	ORPHA:2912
Generalized Glucocorticoid Resistance Syndrome	Precocious puberty, Abnormal circulating testosterone concentration, Increased circulating cortis...	ORPHA:786
Degcags Syndrome	Pyloric stenosis, Hypopigmentation of the skin, Gastroesophageal reflux, Oral-pharyngeal dysphagi...	OMIM:619488
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse pubic hair, Sparse eyebrow, Xerostomia, Fair hair, Rectovaginal fistula, Sparse eyelashes,...	OMIM:129900
Diffuse Cutaneous Mastocytosis	Diarrhea, Vomiting, Gastrointestinal hemorrhage, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Gapo Syndrome	Optic atrophy, Sparse eyebrow, Alopecia, Hypopigmented skin patches, Sparse eyelashes, Early balding	ORPHA:2067
Hepatoerythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Loss of eyelashes, Scarring alopecia of scal...	ORPHA:95159
Frontal Encephalocele	Leukodystrophy	ORPHA:1931
Alzheimer Disease 4	Neurofibrillary tangles	OMIM:606889
Immunodeficiency 23	Myoclonus, Ataxia, Abnormal CNS myelination, High palate, Cortical myoclonus, Esophageal stricture	OMIM:615816
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory failure, Death in childhood, Death in infancy	OMIM:620278
Lethal Acantholytic Erosive Disorder	Fragile skin, Respiratory failure	ORPHA:158687
Multiple System Atrophy 1, Susceptibility To	Neurodegeneration, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Bradykinesia	OMIM:146500
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Large placenta, Respiratory failure, Umbilical hernia	ORPHA:254528
Hyperimmunoglobulinemia D With Periodic Fever	Erythema, Acrocyanosis, Purpura, Urticaria	ORPHA:343
Orofaciodigital Syndrome Xiv	CNS hypomyelination, Anteriorly placed anus, Hamartoma of tongue, Aplasia of the epiglottis, Bifi...	OMIM:615948
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cyanosis, Neonatal respiratory distress, Death in childhood, Death in infancy	OMIM:618426
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Abnormal upper motor neuron morphology, Cerebellar atrophy	OMIM:215470
Parkinson Disease 21	Parkinsonism, Bradykinesia, Tremor, Rigidity	OMIM:616361
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Truncal ataxia, Limb ataxia, Leukodystrophy	OMIM:619051
Alg8-Cdg	Cerebral cortical atrophy, Leukodystrophy, Abnormality of the gastrointestinal tract, Ataxia, Mac...	ORPHA:79325
Rere-Related Neurodevelopmental Syndrome	Broad eyebrow, Gastroesophageal reflux, CNS demyelination, Dysphagia	ORPHA:494344
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Intestinal malrotation, Microcolon	OMIM:619431
Charcot-Marie-Tooth Disease Type 4B2	Optic atrophy, Tremor, Vocal cord paralysis, Poor fine motor coordination, Myelin outfoldings	ORPHA:99956
Koolen-De Vries Syndrome	High, narrow palate, Narrow palate, Abnormality of hair texture, Hypopigmentation of hair, Cleft ...	ORPHA:96169
Cushing Disease	Increased circulating cortisol level, Increased urinary cortisol level, Increased circulating ACT...	ORPHA:96253
Autosomal Dominant Spastic Paraplegia Type 9A	Seizure, Tremor, Babinski sign, Abnormal pyramidal sign, Corpus callosum atrophy, Spastic gait, S...	ORPHA:447753
Sepsis In Premature Infants	Cyanosis, Jaundice, Purpura, Petechiae	ORPHA:90051
Peroxisome Biogenesis Disorder 12A (Zellweger)	Abnormality of the hairline, CNS demyelination, Cerebral atrophy	OMIM:614886
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Vomiting, Diarrhea, Gastroesophageal reflux, Incoordination, Constipation, Decreased number of la...	OMIM:223900
Arterial Tortuosity Syndrome	Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory arrest, Respiratory fa...	ORPHA:3342
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Poems Syndrome	Plethora, Papilledema, Hyperpigmentation of the skin, Respiratory insufficiency due to muscle wea...	ORPHA:2905
Nijmegen Breakage Syndrome	Progressive vitiligo, Anal stenosis, Glioma, Retinal pigment epithelial mottling, Neurodegenerati...	OMIM:251260
Pulmonary Alveolar Microlithiasis	Respiratory insufficiency, Oxygen desaturation on exertion, Cyanosis, Respiratory failure, Hypoxemia	ORPHA:60025
Koolen-De Vries Syndrome Due To A Point Mutation	Optic atrophy, Alopecia, Hypopigmentation of the skin, Fair hair, Seizure, Generalized-onset seiz...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Optic atrophy, Alopecia, Hypopigmentation of the skin, Fair hair, Seizure, Generalized-onset seiz...	ORPHA:363958
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Respiratory insufficiency	OMIM:617239
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Spasticity, Intention tremor, Neurofibrillary tangles, Ataxia	OMIM:117300
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Hypopigmentation of the skin, Seizure, Chronic constipation, Multifocal seizures, Synophrys	OMIM:301066
Hurler Syndrome	Abnormal CNS myelination, Macroglossia, Neurodegeneration, Hirsutism	OMIM:607014
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, High anterior hairline, Gastroesophageal reflux, Ankyloglossia, Gliosis, Dys...	OMIM:615873
Eec Syndrome	Sparse eyebrow, Coarse hair, Xerostomia, Fine hair, Thick eyebrow, Nail dystrophy, Generalized hy...	ORPHA:1896
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Vomiting, Diarrhea, Seizure, Decreased number of peripheral myelinated nerve fibers, Ataxia, Dyst...	OMIM:256810
Systemic Sclerosis	Barrett esophagus, Alopecia, Irregular hyperpigmentation, Intestinal bleeding, Gastroesophageal r...	ORPHA:90291
Peripartum Cardiomyopathy	Respiratory failure	ORPHA:563
Sotos Syndrome	Hypopigmentation of the skin, Gastroesophageal reflux, Small nail, Sparse anterior scalp hair, Ag...	ORPHA:821
Rabson-Mendenhall Syndrome	Hypertrichosis, Premature graying of hair, Furrowed tongue, Low anterior hairline, Hirsutism, CNS...	ORPHA:769
Focal Dermal Hypoplasia	Optic atrophy, Hypopigmentation of the skin, Anteriorly placed anus, Supernumerary nipple, Intest...	OMIM:305600
Autoimmune Pulmonary Alveolar Proteinosis	Hypoxemia, Cyanosis	ORPHA:747
Mucolipidosis Ii Alpha/Beta	Sparse eyebrow, Hypopigmentation of the skin, Brittle hair, Macroglossia, Sparse hair	OMIM:252500
Kindler Syndrome	Anal stenosis, Spotty hyperpigmentation, Oral leukoplakia, Ridged nail, Spotty hypopigmentation, ...	OMIM:173650
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Riddle Syndrome	Neonatal asphyxia, Erythema, Conjunctival telangiectasia, Telangiectasia, Respiratory failure	ORPHA:420741
Unilateral Polymicrogyria	Cyanosis, Abnormal posturing, Giant somatosensory evoked potentials	ORPHA:268943
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Isolated Sedoheptulokinase Deficiency	Abnormal CNS myelination, Subcortical cerebral atrophy, Steatorrhea	ORPHA:440713
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Chronic constipation, Decreased number of peripheral myelinated nerve fibers	ORPHA:477817
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small nail, Thin eyebrow, Delayed peripheral myelination, Cafe-au-lait spot, Synophrys	ORPHA:364577
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypopigmented skin patches, Seizure, Fine hair, Multiple cafe-au-lait spots, Aplasia/Hypoplasia o...	ORPHA:2637
Papillorenal Syndrome	Gliosis	OMIM:120330
Necrotizing Enterocolitis	Cyanosis	ORPHA:391673
Choanal Atresia	Cyanosis	ORPHA:137914
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Dystonia, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:618278
Double Outlet Right Ventricle	Cyanosis	ORPHA:3426
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Spasticity, Oculogyric crisis, Seizure, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent fa...	OMIM:612716
Malignant Atrophic Papulosis	Telangiectasia of the skin, Respiratory failure	ORPHA:679
Duane Retraction Syndrome	Blepharospasm, Irregular hyperpigmentation, Hypopigmented skin patches, Central heterochromia, Se...	ORPHA:233
Listeriosis	Jaundice, Respiratory failure, Tremor, Miscarriage	ORPHA:533
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Anencephaly, Stillbirth, Severe hydrocephalus	OMIM:236680
Biliary, Renal, Neurologic, And Skeletal Syndrome	Spasticity, Frontotemporal cerebral atrophy, Gastroesophageal reflux, CNS hypomyelination, Esopha...	OMIM:619534
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Abnormal CNS myelination, High palate	OMIM:619053
Mowat-Wilson Syndrome	Bifid uvula, Submucous cleft of soft and hard palate, Polymicrogyria, Periventricular heterotopia...	ORPHA:2152
Prader-Willi Syndrome	Seizure, Frontal upsweep of hair, Chronic constipation, Generalized hypopigmentation, Poor gross ...	OMIM:176270
Hereditary Acrokeratotic Poikiloderma	Irregular hyperpigmentation, Xerostomia, Dystrophic toenail, Hypopigmented skin patches, Oral leu...	ORPHA:2907
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Pulmonary Arteriovenous Malformation	Telangiectasia, Cyanosis, Hypoxemia	ORPHA:2038
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Hypopigmentation of the skin, Increased stool urobilinogen concentration, ...	ORPHA:79277
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Bifid uvula, Submucous cleft of soft and hard palate, Polymicrogyria, Periventricular heterotopia...	ORPHA:261537
Secondary Syringomyelia	Facial paralysis, Pseudobulbar paralysis, Paraplegia, CNS demyelination, Progressive cerebellar a...	ORPHA:99857
Rothmund-Thomson Syndrome, Type 3	Spotty hypopigmentation, Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair	OMIM:615789
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Intestinal malrotation, Microcolon, Abnormality of the gastrointestinal tract, Hypoperistalsis	ORPHA:2241
Neurofibromatosis Type 1	Ataxia, Inguinal freckling, Hypopigmented skin patches, Seizure, Pheochromocytoma, Melanocytic ne...	ORPHA:636
Brittle Cornea Syndrome	Cleft palate, Abnormality of hair pigmentation	ORPHA:90354
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Bifid uvula, Optic atrophy, Submucous cleft of soft and hard palate, Polymicrogyria, Periventricu...	ORPHA:261552
Menkes Disease	Sparse hair, Gastrointestinal hemorrhage, Spasticity, Seizure, Chorea, Hypertonia, Hypopigmentati...	ORPHA:565
Congenital Fiber-Type Disproportion Myopathy	Intercostal muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory failur...	ORPHA:2020
Histiocytoid Cardiomyopathy	Cyanosis, Optic atrophy, Hydrocephalus	ORPHA:137675
Microphthalmia, Syndromic 1	High, narrow palate, Optic disc coloboma, Aganglionic megacolon, Anal atresia, High palate, Recta...	OMIM:309800
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Optic atrophy, Alopecia, Intestinal malrotation, Cleft soft palate, Generalized hypopigmentation,...	OMIM:619321
Pulmonary Capillary Hemangiomatosis	Hypoxemia, Cyanosis	ORPHA:199241
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Death in infancy	OMIM:617478
Microphthalmia With Linear Skin Defects Syndrome	Erythema, Hypopigmented skin patches, Abnormality of retinal pigmentation, Hyperpigmentation of t...	ORPHA:2556
Ethylene Glycol Poisoning	Facial palsy, Cyanosis	ORPHA:31826
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord	ORPHA:35689
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Cystinosis, Nephropathic	Pigmentary retinopathy, Hypopigmentation of the skin, Retinal pigment epithelial mottling, Cerebr...	OMIM:219800
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, High palate, Widow's peak, Hypopigmentation of hair	ORPHA:1974
Familial Dysautonomia	Heterochromia iridis, Optic atrophy, Acrocyanosis, Orthostatic hypotension	ORPHA:1764
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Respiratory insufficiency	ORPHA:95430
Doors Syndrome	Optic atrophy, Congenital hypothyroidism, Sirenomelia, Adrenal hyperplasia, Spina bifida occulta	ORPHA:79500
Glycogen Storage Disease Of Heart, Lethal Congenital	Cyanosis, Hydrocephalus	OMIM:261740
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Tarp Syndrome	Optic atrophy, Cyanosis	ORPHA:2886
Ataxia-Telangiectasia-Like Disorder 2	Neurodegeneration, Cerebellar atrophy, Dysphagia, Ataxia	OMIM:615919
Nijmegen Breakage Syndrome	Cutaneous photosensitivity, Respiratory failure, Freckling	ORPHA:647
Aicardi-Goutières Syndrome	Spasticity, Spastic paraparesis, Degeneration of the striatum, Leukodystrophy, Extrapyramidal mus...	ORPHA:51
Geleophysic Dysplasia 3	Respiratory failure	OMIM:617809
Acute Disseminated Encephalomyelitis	Involuntary movements, Hemiparesis, Abnormal pyramidal sign, CNS demyelination, Ataxia, Diaphragm...	ORPHA:83597
Mucopolysaccharidosis, Type Vii	Coarse hair, Neurodegeneration, Thick eyebrow, Hirsutism, Macroglossia	OMIM:253220
Tuberous Sclerosis Complex	Hypomelanotic macule, Respiratory failure, Noncommunicating hydrocephalus, Generalized abnormalit...	ORPHA:805
Radio-Renal Syndrome	Respiratory failure	ORPHA:3015
Abetalipoproteinemia	Abnormality of retinal pigmentation, Respiratory failure	ORPHA:14
Costello Syndrome	Respiratory insufficiency, Vestibular schwannoma, Hyperpigmentation of the skin, Hydrocephalus, R...	OMIM:218040
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Hypopigmentation of the skin, Xerostomia, Oral-pharyngeal dysphagia, Nail dystrophy, ...	ORPHA:95455
Diets-Jongmans Syndrome	Gliosis, Duodenal atresia	OMIM:618846
Heterotaxy, Visceral, 1, X-Linked	Myelomeningocele, Aqueductal stenosis, Hydrocephalus, Cyanosis	OMIM:306955
Cushing Syndrome Due To Ectopic Acth Secretion	Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Increased circulating cortisol level, Increas...	ORPHA:99889
Japanese Encephalitis	Paucity of anterior horn motor neurons, Facial palsy, Decreased motor nerve conduction velocity, ...	ORPHA:79139
Mosaic Trisomy 20	Hypopigmented streaks, Depigmentation/hyperpigmentation of skin, Cleft palate	ORPHA:1724
Cardiogenic Shock	Cyanosis, Hypoxemia	ORPHA:97292
Complete Atrioventricular Septal Defect	Cyanosis	ORPHA:1329
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory failure, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency	ORPHA:365
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Hearing impairment, Cochlear degeneration	ORPHA:95433
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Spasticity, Hypertonia, Tremor, Rigidity	OMIM:176500
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Large placenta, Spinal dysraphism, Respiratory failure, Miscarriage	ORPHA:96334
Hemorrhagic Fever-Renal Syndrome	Petechiae, Respiratory failure, Ecchymosis	ORPHA:340
Kallmann Syndrome	Seizure, Breast hypoplasia, Paraplegia, Tremor, Ataxia	ORPHA:478
Cowden Syndrome	Hypopigmented skin patches, Furrowed tongue, Melanocytic nevus, Hamartomatous polyposis, Multiple...	ORPHA:201
Steinert Myotonic Dystrophy	Respiratory insufficiency, Facial diplegia, Respiratory insufficiency due to muscle weakness, Res...	ORPHA:273
Otopalatodigital Syndrome, Type Ii	Respiratory insufficiency, Umbilical hernia, Hydrocephalus, Spina bifida, Stillbirth, Respiratory...	OMIM:304120
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Hyperoxaluria, Primary, Type I	Acrocyanosis, Optic atrophy, Cutis marmorata, Optic neuropathy	OMIM:259900
Myhre Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:139210
Atrial Septal Defect, Ostium Primum Type	Cyanosis	ORPHA:99106
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hemiplegia, CNS demyelination, Tetraplegia, Hypertonia, Ataxia	OMIM:603553
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Cardiorespiratory arrest, Cyanosis, Abnormal autonomic nervous system physiology	ORPHA:293987
Tetraamelia Syndrome 1	Adrenal gland agenesis, Hydrocephalus	OMIM:273395
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Leukodystrophy, Paraplegia, Recurrent gastroenteritis, Hemiparesis, Paraparesis	ORPHA:79124
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
X-Linked Intellectual Disability, Nascimento Type	Abnormal hair whorl, Lumbar hypertrichosis, Nail dystrophy, Low posterior hairline, Generalized h...	ORPHA:163956
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Cerebral cortical atrophy, CNS demyelination, Hypertonia, Dystonia, Spastic tetraplegia	OMIM:620024
Myasthenia Gravis	Acrocyanosis	ORPHA:589
Rajab Interstitial Lung Disease With Brain Calcifications 1	Respiratory failure, Respiratory insufficiency	OMIM:613658
Oculocerebrorenal Syndrome Of Lowe	Gastroesophageal reflux, Fine hair, Seizure, Constipation, Clonus, Generalized hypopigmentation, ...	ORPHA:534
Telangiectasia, Hereditary Hemorrhagic, Type 1	Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect...	OMIM:187300
Cutis Laxa, Autosomal Recessive, Type Iid	Gliosis	OMIM:617403
Monosomy 18Q	Abnormal myelination, Seizure, Low anterior hairline	ORPHA:1600
Esophageal Atresia	Cyanosis	ORPHA:1199
Fraser Syndrome 2	Respiratory failure	OMIM:617666
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Cafe-au-lait s...	OMIM:210720
Spondyloenchondrodysplasia With Immune Dysregulation	Vitiligo, Hypermelanotic macule, Hypopigmented skin patches on arms	OMIM:607944
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Ear-Patella-Short Stature Syndrome	Respiratory failure	ORPHA:2554
Severe Generalized Junctional Epidermolysis Bullosa	Fragile skin, Respiratory failure	ORPHA:79404
Primary Hyperoxaluria	Acrocyanosis, Optic disc pallor, Cutis marmorata, Optic atrophy	ORPHA:416
Sarcoidosis	Alopecia, Hypopigmentation of the skin, Parotitis, Enlargement of parotid gland, Hyperpigmentatio...	ORPHA:797
Dermatomyositis	Erythema, Shawl sign, V-sign, Respiratory insufficiency, Cutaneous photosensitivity, Facial eryth...	ORPHA:221
Atrial Septal Defect, Coronary Sinus Type	Cyanosis	ORPHA:99104
Congenital Tracheal Stenosis	Neonatal asphyxia, Cyanosis	ORPHA:141127
Telangiectasia, Hereditary Hemorrhagic, Type 2	Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia...	OMIM:600376
Glycogen Storage Disease Ii	Abnormal CNS myelination, Macroglossia, Diaphragmatic paralysis	OMIM:232300
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia	ORPHA:1578
Pallister-Killian Syndrome	Hyperpigmented streaks, Bifid uvula, Sparse eyebrow, Hypopigmentation of the skin, Alopecia, Anal...	OMIM:601803
Autosomal Recessive Polycystic Kidney Disease	Jaundice, Respiratory failure	ORPHA:731
Combined Oxidative Phosphorylation Deficiency 59	CNS demyelination	OMIM:620646
Acute Transverse Myelitis	Spasticity, Paraplegia, Abnormality of extrapyramidal motor function, Paralytic ileus, Babinski s...	ORPHA:139417
Cockayne Syndrome Type 3	Dry hair, Seizure, Premature graying of hair, Demyelinating peripheral neuropathy, Abnormal myeli...	ORPHA:90324
Atrial Septal Defect, Ostium Secundum Type	Cyanosis	ORPHA:99103
Telangiectasia, Hereditary Hemorrhagic, Type 4	Tongue telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Conjunctival telangiectasia, Palate...	OMIM:610655
Atypical Werner Syndrome	Abnormal hair whorl, Alopecia, Premature graying of hair, Abnormal hair morphology, Sparse body h...	ORPHA:79474
Hutchinson-Gilford Progeria Syndrome	Premature skin wrinkling, Generalized abnormality of skin, Cyanosis, Prominent superficial blood ...	ORPHA:740
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Abnormality of the peripheral nervous system, Vasculitis in th...	ORPHA:48435
Absence Of The Pulmonary Artery	Hypocapnia, Cyanosis	ORPHA:980
Double Outlet Left Ventricle	Cyanosis	ORPHA:3427
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Respiratory failure, Optic nerve hypoplasia	ORPHA:500150
Classical Ehlers-Danlos Syndrome	Poor wound healing, Bruising susceptibility, Umbilical hernia, Ecchymosis, Fragile skin, Orthosta...	ORPHA:287
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Ileal atresia	OMIM:619351
Nocardiosis	Respiratory failure	ORPHA:31204
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Respiratory failure	ORPHA:2636
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Patchy hypo- and hyperpigmentation, High palate, Cleft palate, Synophrys	ORPHA:3063
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Leukodystrophy	ORPHA:370997
Restrictive Dermopathy	Sparse eyebrow, Short nail, Microcolon, Sparse or absent eyelashes, Submucous cleft hard palate, ...	ORPHA:1662
Isolated Complex I Deficiency	Leukodystrophy, Ataxia	ORPHA:2609
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis	ORPHA:99050
Mend Syndrome	Spotty hypopigmentation, High palate, Abnormal auditory evoked potentials, Cleft palate	ORPHA:401973
Aortic Arch Interruption	Cyanosis	ORPHA:2299
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Hematochezia, Leukodystrophy	OMIM:619575
Eisenmenger Syndrome	Hypoxemia, Cyanosis	ORPHA:97214
Mend Syndrome	Spotty hypopigmentation, High palate	OMIM:300960
Hypermobile Ehlers-Danlos Syndrome	Bruising susceptibility, Umbilical hernia, Decreased nerve conduction velocity, Abnormal autonomi...	ORPHA:285
Primrose Syndrome	Ataxia, Seizure, Sparse body hair, Neurodegeneration, Dystrophic fingernails, Absent axillary hai...	OMIM:259050
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Microcolon, Intestinal malrotation	OMIM:600001
Truncus Arteriosus	Cyanosis	ORPHA:3384
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Ulbright-Hodes Syndrome	Respiratory failure	ORPHA:3404
Peroxisome Biogenesis Disorder 1B	Leukodystrophy	OMIM:601539
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination	ORPHA:309854
Coffin-Lowry Syndrome	Cutis marmorata, Acrocyanosis	OMIM:303600
Generalized Arterial Calcification Of Infancy	Cyanosis	ORPHA:51608
Goodpasture Syndrome	Cyanosis	OMIM:233450
Congenital Total Pulmonary Venous Return Anomaly	Cyanosis, Respiratory failure requiring assisted ventilation	ORPHA:99125
Orofaciodigital Syndrome Type 14	Abnormal myelination	ORPHA:434179

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Sox10

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Sox10.

No publications found that use IMPC mice or data for Sox10.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Sox10^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Sox10^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Sox10^{tm1b(EUCOMM)Hmgu}	Reporter-tagged deletion allele (with selection cassette)	Mice

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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