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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	Wholemount images	heterozygote	100% (2 of 2)
Brain	Wholemount images	heterozygote	100% (2 of 2)
Brainstem	Wholemount images	heterozygote	100% (2 of 2)
Cerebellum	Wholemount images	heterozygote	100% (2 of 2)
Cerebral cortex	Wholemount images	heterozygote	100% (2 of 2)
Hippocampus	Wholemount images	heterozygote	100% (2 of 2)
Hypothalamus	Wholemount images	heterozygote	100% (2 of 2)
Olfactory lobe	Wholemount images	heterozygote	100% (2 of 2)
Peripheral nervous system	Wholemount images	heterozygote	100% (2 of 2)
Prostate gland	Wholemount images	heterozygote	Not available
Skin	Wholemount images	heterozygote	100% (2 of 2)
Spinal cord	Wholemount images	heterozygote	100% (2 of 2)
Striatum	Wholemount images	heterozygote	100% (2 of 2)
Testis	Wholemount images	heterozygote	50% (1 of 2)
Thyroid gland	Wholemount images	heterozygote	100% (2 of 2)
Trigeminal V nerve	Wholemount images	heterozygote	100% (2 of 2)
Vas deferens	Wholemount images	heterozygote	Not available
Aorta	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cecum	N/A	heterozygote	0.0% (0 of 1)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Eye	N/A	heterozygote	Not available
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Mesenteric lymph node	N/A	heterozygote	0.0% (0 of 2)
Oral epithelium	N/A	heterozygote	0.0% (0 of 2)
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Thymus	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Urinary bladder	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
Vascular system	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

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

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

No Embryo expression data was found for this gene.

Associated Images

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

Adult LacZ

LacZ Images Wholemount

11 Images

View images

Human diseases caused by Sox10 mutations

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

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

Human diseases associated with Sox10 (7 diseases)
Human diseases predicted to be associated with Sox10 (1427 diseases)

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

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

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

Disease	Matching phenotypes	Source
Albinism-Microcephaly-Digital Anomalies Syndrome	Albinism	OMIM:203340
Albinism-Deafness Syndrome	Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism	OMIM:300700
Dyschromatosis Universalis Hereditaria 1	Hyperpigmented/hypopigmented macules	OMIM:127500
Dowling-Degos Disease 3	Hyperpigmented/hypopigmented macules	OMIM:615674
Dyschromatosis Symmetrica Hereditaria	Hyperpigmented/hypopigmented macules	OMIM:127400
Mediosternal Depigmentation Line	Mediosternal, longitudinal streak of hypopigmentation	OMIM:155200
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Raindrop Hypopigmentation	Hypopigmentation of the skin	OMIM:179500
Lentiginosis, Inherited Patterned	Hypermelanotic macule	OMIM:151001
Hairy Palms And Soles	Hypermelanotic macule	OMIM:139650
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Familial Isolated Café-Au-Lait Macules	Multiple cafe-au-lait spots, Freckling	ORPHA:2678
Dowling-Degos Disease 1	Progressive reticulate hyperpigmentation	OMIM:179850
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P...	OMIM:613265
Acroleukopathy, Symmetric	Symmetric great toe depigmentation	OMIM:102000
Hyperpigmentation Of Fuldauer And Kuijpers	Hyperpigmentation of the skin	OMIM:145200
Hyperpigmentation, Familial Progressive, 1	Hyperpigmentation of the skin	OMIM:614233
Nasal Hyperpigmentation, Familial Transverse	Hyperpigmentation of the skin	OMIM:161530
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Griscelli Syndrome, Type 1	Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar...	OMIM:214450
Neurodegeneration Due To Cerebral Folate Transport Deficiency	Neurodegeneration	OMIM:613068
Albinism, Oculocutaneous, Type Iii	Red hair, Partial albinism, Albinism	OMIM:203290
Tietz Syndrome	Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e...	ORPHA:42665
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Aganglionic megacolon, Piebaldism, Wh...	OMIM:172800
Deafness, Autosomal Dominant 85	Sensorineural hearing impairment, Cochlear nerve hypoplasia	OMIM:620227
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Deafness, Congenital, With Total Albinism	Albinism	OMIM:220900
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Aganglionosis, Total Intestinal	Total intestinal aganglionosis	OMIM:202550
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect	Hyperpigmentation of the skin	OMIM:202355
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	OMIM:126070
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Abnormal eyelash mo...	ORPHA:2885
Dyschromatosis Universalis Hereditaria	Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait...	ORPHA:241
Hirschsprung Disease, Susceptibility To, 2	Aganglionic megacolon	OMIM:600155
Hirschsprung Disease, Susceptibility To, 5	Aganglionic megacolon	OMIM:600156
Hirschsprung Disease, Susceptibility To, 4	Aganglionic megacolon	OMIM:613712
Waardenburg Syndrome Type 2	Hypopigmentation of hair, Aganglionic megacolon, Hypopigmented skin patches, Premature graying of...	ORPHA:895
Uv-Sensitive Syndrome 2	Freckling	OMIM:614621
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P...	OMIM:277580
Diamond-Blackfan Anemia 17	Hyperpigmentation of the skin	OMIM:617409
Hirschsprung Disease With Type D Brachydactyly	Aganglionic megacolon	OMIM:306980
Waardenburg Syndrome, Type 2F	Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a...	OMIM:619947
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod...	OMIM:617294
Book Syndrome	Premature graying of hair	OMIM:112300
Piebald Trait With Neurologic Defects	White forelock, Absent pigmentation of the ventral chest, Ataxia	OMIM:172850
Albinism, Oculocutaneous, Type Ib	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:606952
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Generalized hyperpigmentation, Ataxia, Tremor, Rigidity, Optic atrophy,...	ORPHA:33445
Dowling-Degos Disease 2	Hypomelanotic macule, Reticular hyperpigmentation	OMIM:615327
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener...	ORPHA:79433
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus	ORPHA:2435
Deafness, X-Linked 6	Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea	OMIM:300914
Deafness, Autosomal Dominant 87	Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II	OMIM:620281
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Neurodegeneration, Childhood-Onset, With Brain Atrophy	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Ce...	OMIM:617672
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation, Seizure, Epileptic spasm, Infantile spasms	OMIM:212067
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon	OMIM:235750
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk...	ORPHA:2884
Abcd Syndrome	White eyelashes, Aganglionic megacolon, White eyebrow, Abnormal auditory evoked potentials, Albin...	OMIM:600501
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig...	OMIM:145250
Ermine Phenotype	White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo	OMIM:227010
X-Linked Complicated Corpus Callosum Dysgenesis	Aganglionic megacolon	ORPHA:1497
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses	Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation	OMIM:620199
Waardenburg-Shah Syndrome	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ag...	ORPHA:897
Anonychia With Flexural Pigmentation	Axillary and groin hyperpigmentation and hypopigmentation, Anonychia	OMIM:106750
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Enterocolitis	OMIM:142623
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Anal atresia	OMIM:235760
Griscelli Syndrome, Type 2	Accumulation of melanosomes in melanocytes, Silver-gray hair, Seizure, Melanin pigment aggregatio...	OMIM:607624
Oculocerebral Syndrome With Hypopigmentation	Silver-gray hair, Hypopigmentation of the skin	OMIM:257800
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Hypopigmentation of hair, Partial albinism	ORPHA:90023
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F	Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel...	OMIM:607734
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome	Hypopigmented skin patches, Hyperpigmentation of the skin	ORPHA:2819
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis	OMIM:103500
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon	OMIM:235740
Uncombable Hair Syndrome	Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Spastic Paraplegia With Neuropathy And Poikiloderma	Absent eyebrow, Demyelinating sensory neuropathy, Absent eyelashes, Demyelinating motor neuropath...	OMIM:182815
Glucocorticoid Deficiency 3	Hyperpigmentation of the skin	OMIM:609197
Hirschsprung Disease-Type D Brachydactyly Syndrome	Aganglionic megacolon	ORPHA:2150
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Abnormal pyramidal sign, Cerebral atrophy,...	ORPHA:527497
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Aganglionic megacolon	ORPHA:2155
Axin2-Related Attenuated Familial Adenomatous Polyposis	Adenomatous colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, Colon cancer, Sparse...	ORPHA:401911
Peroxisome Biogenesis Disorder 8B	Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Ataxia, Limb tremor, Constipation, Br...	OMIM:614877
Elejalde Neuroectodermal Melanolysosomal Syndrome	Accumulation of melanosomes in melanocytes, Ataxia, Silver-gray hair, Seizure, Melanin pigment ag...	OMIM:256710
Thumb Deformity And Alopecia	Alopecia, Increased groin pigmentation with raindrop depigmentation	OMIM:188150
Pili Bifurcati	Abnormal hair morphology, Abnormality of hair texture	ORPHA:720
Roussy-Levy Hereditary Areflexic Dystasia	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural...	OMIM:180800
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Oculocutaneous Albinism Type 2	Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab...	ORPHA:79432
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Aganglionic megacolon, Intestinal malrotation...	OMIM:243180
Charcot-Marie-Tooth Disease, Dominant Intermediate B	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental...	OMIM:606482
Leukodystrophy, Hypomyelinating, 11	Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity	OMIM:616494
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy	Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Truncal ataxia, Limb a...	OMIM:617560
Drug-Induced Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90157
Monomelic Amyotrophy	Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction	ORPHA:65684
Leukoencephalopathy, Brain Calcifications, And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Seizure, Abnormality of extrapyramidal motor function, L...	OMIM:614561
Albinism, Oculocutaneous, Type V	Albinism	OMIM:615312
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Short-segment aganglionic megacolon	OMIM:619465
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ...	ORPHA:79397
Tremor Of Intention, Ataxia, And Lipofuscinosis	Premature graying of hair, Ataxia, Intention tremor	OMIM:190200
L-2-Hydroxyglutaric Aciduria	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu...	OMIM:236792
Waardenburg Syndrome, Type 3	Partial albinism, Aganglionic megacolon, Synophrys, Blue irides, Hypopigmented skin patches, Prem...	OMIM:148820
Developmental And Epileptic Encephalopathy 14	Delayed CNS myelination, Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervo...	OMIM:614959
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation	Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ...	OMIM:131960
Autosomal Spastic Paraplegia Type 58	Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ...	ORPHA:397946
Hereditary Methemoglobinemia	Cerebellar atrophy, Delayed myelination, Temporal cortical atrophy, Spastic tetraplegia, Spastici...	ORPHA:621
Optic Atrophy 2	Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy	OMIM:311050
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Blue irides, Albinism	OMIM:606574
Pelizaeus-Merzbacher Disease	Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Reduction of oligodendrogl...	OMIM:312080
Waardenburg Syndrome Type 1	Hypopigmentation of hair, White eyelashes, White eyebrow, Aganglionic megacolon, Abnormal hair mo...	ORPHA:894
Corpus Callosum, Partial Agenesis Of, X-Linked	High palate, Hydrocephalus, Aganglionic megacolon	OMIM:304100
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1	Parkinsonism, Corpus callosum atrophy, Rigidity, Dysphagia, Bradykinesia, Gliosis, Apraxia, CNS d...	OMIM:221820
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia	Seizure, Fair hair, Incoordination, Gait ataxia	OMIM:618808
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Aganglionic megacolon, Blue irides, Hypopigmented skin patches, P...	OMIM:613266
Albinism, Oculocutaneous, Type Vi	Generalized hypopigmentation, Fair hair	OMIM:113750
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, CNS hypomyelinatio...	OMIM:607694
Krabbe Disease	Diffuse cerebral atrophy, Optic atrophy, Seizure, Hypertonia, Neurodegeneration, Vomiting, Progre...	OMIM:245200
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Albinism, Oculocutaneous, Type Ia	Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb...	OMIM:203100
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome	Macular hyperpigmented dermopathy, White forelock	ORPHA:2779
Neuroblastoma, Susceptibility To, 2	Aganglionic megacolon	OMIM:613013
Metachromatic Leukodystrophy Due To Saposin B Deficiency	Spastic tetraparesis, Babinski sign, Gait ataxia, Seizure, Dysphagia, CNS demyelination, Peripher...	OMIM:249900
Spinocerebellar Ataxia 17	Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, D...	OMIM:607136
Ceroid Lipofuscinosis, Neuronal, 7	Cerebellar atrophy, Ataxia, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Neurodegener...	OMIM:610951
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex	Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp...	ORPHA:89838
Leukodystrophy, Hypomyelinating, 15	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Cerebral atrophy, CNS hypomyelination, Dysph...	OMIM:617951
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig...	OMIM:203200
Albinism, Ocular, With Late-Onset Sensorineural Deafness	Giant melanosomes in melanocytes, Albinism	OMIM:300650
Anonychia With Flexural Pigmentation	Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig...	ORPHA:69125
Immunodeficiency Due To Defect In Mapbp-Interacting Protein	Hypopigmentation of the skin	OMIM:610798
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Hypopigmentation of hair,...	ORPHA:3440
Methionine Adenosyltransferase I/Iii Deficiency	CNS demyelination, Peripheral demyelination, Dystonia	OMIM:250850
L1 Syndrome	Aqueductal stenosis, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Stxbp1-Related Encephalopathy	Epileptic spasm, Ataxia, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Tremo...	ORPHA:599373
Charcot-Marie-Tooth Disease, Type 4A	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop...	OMIM:214400
Huntington Disease	Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra...	OMIM:143100
Woolly Hair	Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair...	ORPHA:170
Developmental And Epileptic Encephalopathy 5	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Gastroesophageal ...	OMIM:613477
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, CNS hypomyelination, Gait...	OMIM:614381
Charcot-Marie-Tooth Disease, Dominant Intermediate A	Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration...	OMIM:620378
Spinocerebellar Ataxia 38	Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene...	OMIM:615957
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	OMIM:614895
Leukodystrophy, Hypomyelinating, 2	Dystonia, Ataxia, Demyelinating motor neuropathy, Rigidity, Head titubation, Babinski sign, Cereb...	OMIM:608804
Episodic Ataxia, Type 1	Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait	OMIM:160120
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy	DECIPHER:59
Leukodystrophy, Hypomyelinating, 6	Cerebellar atrophy, Ataxia, Tremor, Rigidity, Choreoathetosis, Leukodystrophy, Dystonia, Oculomot...	OMIM:612438
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome	Cerebellar atrophy, Corpus callosum atrophy, Abnormal pyramidal sign, Tetraplegia, CNS hypomyelin...	ORPHA:369939
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th...	ORPHA:388
Griscelli Syndrome Type 1	Partial albinism, Ataxia, White hair, Premature graying of hair, Seizure, Hypertonia, Iris hypopi...	ORPHA:79476
Adducted Thumbs Syndrome	Myelin-dependent gliosis, Cerebral dysmyelination, High, narrow palate, Velopharyngeal insufficie...	OMIM:201550
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)	Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Foc...	OMIM:615362
Developmental And Epileptic Encephalopathy 54	Bilateral tonic-clonic seizure, Tonic seizure, Delayed myelination, Seizure, Myoclonus, Atypical ...	OMIM:617391
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form	Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy...	ORPHA:79399
Tremor-Ataxia-Central Hypomyelination Syndrome	Ataxia, Postural tremor, Babinski sign, Dysmetria, CNS hypomyelination, Spastic dysarthria, Clums...	ORPHA:447896
Epilepsy, Progressive Myoclonic, 1B	Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Generalized myoclonic seizure, Atonic seizur...	OMIM:612437
Spinocerebellar Ataxia Type 43	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ...	ORPHA:497764
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia	Cerebellar atrophy, Highly arched eyebrow, Synophrys, Cerebral atrophy, CNS hypomyelination, Long...	OMIM:619286
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	ORPHA:2786
Spinocerebellar Ataxia, Autosomal Recessive 4	Cerebellar atrophy, Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abn...	OMIM:607317
Homocarnosinosis	Abnormality of skin pigmentation, Abnormality of retinal pigmentation	OMIM:236130
Yemenite Deaf-Blind Hypopigmentation Syndrome	Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock	OMIM:601706
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G	Babinski sign, Hand tremor, Frequent falls, Onion bulb formation, Peripheral demyelination	OMIM:618279
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl...	OMIM:604484
Hidrotic Ectodermal Dysplasia	Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ...	ORPHA:189
Acute Inflammatory Demyelinating Polyradiculoneuropathy	Acute demyelinating polyneuropathy, Onion bulb formation, Gait ataxia, Impaired oropharyngeal swa...	ORPHA:98916
Deafness, Dystonia, And Cerebral Hypomyelination	Cerebellar atrophy, Abnormal pyramidal sign, Tetraplegia, Cerebral atrophy, Dystonia, Cerebral hy...	OMIM:300475
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A	Decreased number of peripheral myelinated nerve fibers, Tremor, Babinski sign, Optic atrophy, Hyp...	OMIM:609260
Intellectual Developmental Disorder, X-Linked 104	Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Seizure, Frontal upsweep of hair, Spastic...	OMIM:300983
Neuromyelitis Optica Spectrum Disorder	Neuronal loss in central nervous system, Paraplegia, Peripheral demyelination, Nausea	ORPHA:71211
Null Syndrome	Ataxia, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, Peripheral demyelin...	ORPHA:280234
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay	Tremor, Seizure, Ataxia	OMIM:213000
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Gliosis, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Babinski sign, Cerebral atrophy, Seizure, Axonal loss, Myoclonus, Apraxia, Spast...	OMIM:221770
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg	Segmental peripheral demyelination/remyelination, Onion bulb formation, Axonal degeneration/regen...	OMIM:606483
Spastic Ataxia 5, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Oculomotor ...	OMIM:614487
White Forelock With Malformations	White forelock, Poliosis	OMIM:277740
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Dystonia, Paralysis, Athetosis, Gliosis, Dysphagia	OMIM:300857
Kaya-Barakat-Masson Syndrome	Cerebellar atrophy, Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Limb dystonia, Sp...	OMIM:619125
Gemignani Syndrome	Hypopigmented skin patches	ORPHA:2074
Congenital Central Hypoventilation Syndrome	Abnormality of the autonomic nervous system, Aganglionic megacolon	ORPHA:661
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c...	ORPHA:90117
Spastic Paraplegia 44, Autosomal Recessive	Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelination,...	OMIM:613206
Spinocerebellar Ataxia Type 15/16	Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato...	ORPHA:98769
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3	Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait	OMIM:613227
Dystonia 31	Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia...	OMIM:619565
Epilepsy, Progressive Myoclonic 7	Cerebellar atrophy, Bilateral tonic-clonic seizure, Ataxia, Tremor, Myoclonic seizure, Myoclonus	OMIM:616187
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Hypotrichosis 8	Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,...	OMIM:278150
Paraparetic Variant Of Guillain-Barré Syndrome	Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination	ORPHA:231445
Spinocerebellar Ataxia, Autosomal Recessive 2	Incoordination, Ataxia, Tremor, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spasticity, Cerebel...	OMIM:213200
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonis...	ORPHA:300605
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation	Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity	OMIM:611105
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C	Onion bulb formation, Ataxia, Segmental peripheral demyelination/remyelination, Gait ataxia, Hype...	OMIM:601098
4H Leukodystrophy	Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Dysphagia, Progressive gait ataxia, Dysdiadochokin...	ORPHA:289494
Sandhoff Disease, Adult Form	Dystonia, Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dysphagia, Spasticity, Sensory axo...	ORPHA:309169
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,...	OMIM:105550
Hypertrophic Neuropathy Of Dejerine-Sottas	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:145900
Giant Axonal Neuropathy	Babinski sign, CNS hypomyelination, Woolly hair, Spasticity, Pili canaliculi	ORPHA:643
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B	Decreased number of peripheral myelinated nerve fibers, Myelin outfoldings, Onion bulb formation,...	OMIM:118200
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Charcot-Marie-Tooth Disease, Type 4C	Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe...	OMIM:601596
Spinocerebellar Ataxia 43	Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Cerebellar vermis atrophy	OMIM:617018
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Spinocerebellar Ataxia Type 25	Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic...	ORPHA:101111
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)	Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Involuntary movements, Decreased number...	OMIM:271245
Congenital Cataracts, Facial Dysmorphism, And Neuropathy	Peripheral axonal degeneration, Ataxia, Chorea, Axonal degeneration, Babinski sign, Cerebral atro...	OMIM:604168
Charcot-Marie-Tooth Disease, Axonal, Type 2A1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals...	OMIM:118210
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Babinski sign, Spasticity, Frequent falls, S...	OMIM:619742
Charcot-Marie-Tooth Disease, Type 4K	Axonal loss, Ataxia, Peripheral demyelination, Dystonia	OMIM:616684
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Hyperpigmentation of the skin, Death in childhood	OMIM:302000
Developmental And Epileptic Encephalopathy 79	Frontotemporal cerebral atrophy, Spasticity, Cerebral cortical atrophy, CNS hypomyelination	OMIM:618559
Subacute Inflammatory Demyelinating Polyneuropathy	Symmetric peripheral demyelination, Demyelinating motor neuropathy, Tremor, Choreoathetosis, Axon...	ORPHA:206594
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, White eyelashes, White eyebrow, Ataxia, Cerebral dysmyelination, Dysmyelinating leuk...	OMIM:609136
Pelizaeus-Merzbacher Disease, Transitional Form	Spastic tetraparesis, CNS hypomyelination	ORPHA:280224
Primary Orthostatic Tremor	Tremor, Abnormality of extrapyramidal motor function	ORPHA:238606
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct	Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl...	OMIM:600791
Hypomyelination-Congenital Cataract Syndrome	Cerebral hypomyelination, Abnormal pyramidal sign	ORPHA:85163
Spinocerebellar Ataxia 37	Cerebellar atrophy, Ataxia, Tremor, Dysphagia, Frequent falls	OMIM:615945
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Early-onset Alzheimer disease with cerebral amyloid angiopathy	Neurofibrillary tangles	DECIPHER:48
Spinocerebellar Ataxia, Autosomal Recessive 27	Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Dys...	OMIM:618369
Alzheimer Disease 2	Neurofibrillary tangles	OMIM:104310
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial...	OMIM:301830
Leukodystrophy, Hypomyelinating, 5	Truncal titubation, Babinski sign, Abnormal pyramidal sign, CNS hypomyelination, Leukodystrophy, ...	OMIM:610532
Encephalopathy, Progressive, With Or Without Lipodystrophy	Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Myoclonus, Tetraparesis, Dyst...	OMIM:615924
Migraine, Familial Hemiplegic, 1	Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Seizure, Hemiplegia	OMIM:141500
Diaminopentanuria	Seizure, Spasticity, Neurodegeneration, Ataxia	OMIM:222350
Lichtenstein-Knorr Syndrome	Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cafe-au-lait...	OMIM:616291
Leukodystrophy, Hypomyelinating, 10	Babinski sign, Prominent eyelashes, Cerebral atrophy, CNS hypomyelination, Hyperkinetic movements...	OMIM:616420
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1	Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner...	OMIM:302800
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome	Ataxia, CNS hypomyelination	ORPHA:88637
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Aganglionic megacolon	ORPHA:2151
Lissencephaly Due To Tuba1A Mutation	Aganglionic megacolon, Optic nerve hypoplasia, Pachygyria, Perisylvian polymicrogyria, Lissenceph...	ORPHA:171680
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:118220
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Myoclonic-Atonic Epilepsy	Delayed CNS myelination, Ataxia, Tremor, Generalized myoclonic-atonic seizure, Generalized non-mo...	OMIM:616421
Slowed Nerve Conduction Velocity, Autosomal Dominant	Onion bulb formation, Peripheral demyelination	OMIM:608236
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Degeneration of anterior horn cells, Facial palsy	OMIM:159950
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Oculogyric crisis, ...	ORPHA:330050
Developmental And Epileptic Encephalopathy 78	Chorea, Cerebral palsy, Spasticity, CNS hypomyelination	OMIM:618557
Spasticity, Childhood-Onset, With Hyperglycinemia	Spastic ataxia, Babinski sign, Abnormal pyramidal sign, Spastic diplegia, Leukodystrophy, Spasticity	OMIM:616859
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome	Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T...	ORPHA:2386
Aland Island Eye Disease	Albinism	OMIM:300600
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Brain...	ORPHA:52430
Spastic Paraplegia 55, Autosomal Recessive	Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl...	OMIM:615035
Deafness, Autosomal Dominant 80	Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia	OMIM:619274
Folinic Acid-Responsive Seizures	Cerebellar atrophy, Ataxia, Spastic tetraparesis, Delayed myelination, Chorea, Frontotemporal cer...	ORPHA:79097
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse...	ORPHA:2251
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Sporadic Creutzfeldt-Jakob Disease	Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex...	ORPHA:204
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy	Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower...	ORPHA:438114
Dermotrichic Syndrome	Aganglionic megacolon	ORPHA:99688
Neuropathy, Hereditary, With Liability To Pressure Palsies	Vocal cord paralysis, Segmental peripheral demyelination/remyelination	OMIM:162500
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Frontotemporal Dementia With Motor Neuron Disease	Weakness due to upper motor neuron dysfunction, Parkinsonism, Degeneration of the lateral cortico...	ORPHA:275872
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Autosomal Recessive Spastic Paraplegia Type 35	Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Bowel incontinence, Spastic tetr...	ORPHA:171629
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6	Vitiligo	OMIM:193200
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness	Peripheral axonal degeneration, Axonal loss, Clusters of axonal regeneration, Chronic axonal neur...	ORPHA:101097
Epidermolysis Bullosa Acquisita	Abnormal hair morphology, Inflammation of the large intestine, Nail dystrophy, Hyperpigmentation ...	ORPHA:46487
Charcot-Marie-Tooth Disease, Dominant Intermediate F	Onion bulb formation, Peripheral demyelination, Axonal regeneration	OMIM:615185
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive	Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Vocal cor...	OMIM:607706
Spinocerebellar Ataxia, Autosomal Recessive 3	Cochlear degeneration, Hearing impairment	OMIM:271250
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Cerebellar atrophy, Lower limb spasticity, Dystonia, Ataxia, Spastic tetraparesis, Dysmyelinating...	OMIM:612319
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type	Cerebellar atrophy, Delayed CNS myelination, Bilateral tonic-clonic seizure, Parkinsonism, Rigidi...	OMIM:300423
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies	Cerebral atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Gliosis, Neuronal loss...	OMIM:604218
Primary Dystonia, Dyt27 Type	Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman...	ORPHA:464440
Pelizaeus-Merzbacher disease	Abnormal CNS myelination, Leukodystrophy	DECIPHER:38
Charcot-Marie-Tooth Disease, Dominant Intermediate D	Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination	OMIM:607791
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1	Vitiligo	OMIM:606579
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements	Torticollis, Bilateral tonic-clonic seizure, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dyst...	OMIM:618425
Microcephaly-Capillary Malformation Syndrome	Spastic tetraparesis, Abnormal hair whorl, Delayed myelination, Cerebral atrophy, CNS hypomyelina...	OMIM:614261
Autosomal Recessive Spastic Paraplegia Type 71	Abnormal myelination	ORPHA:401840
Charcot-Marie-Tooth Disease, Axonal, Type 2B	Decreased number of peripheral myelinated nerve fibers, Dystrophic toenail, Fasciculations, Perip...	OMIM:600882
X-Linked Lissencephaly With Abnormal Genitalia	Death in infancy, Pachygyria, Aganglionic megacolon, Malabsorption	ORPHA:452
Developmental And Epileptic Encephalopathy 4	Delayed CNS myelination, Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Chore...	OMIM:612164
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Abnormal autonomic nervous system physiology	OMIM:613870
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Generalized Epilepsy With Febrile Seizures-Plus	Generalized-onset seizure, Bilateral tonic-clonic seizure, Ataxia, Incoordination, Tremor, Focal-...	ORPHA:36387
Leukoencephalopathy With Vanishing White Matter 1	Cerebral hypomyelination, Spasticity, CNS demyelination, Gliosis	OMIM:603896
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Peripheral axonal neu...	OMIM:607250
Spinocerebellar Ataxia 23	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, CNS demyelination...	OMIM:610245
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myocloni...	OMIM:617831
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Ocular albinism, Prematu...	OMIM:611584
Bresek Syndrome	Neonatal death, Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate	ORPHA:85284
Dyskinesia, Limb And Orofacial, Infantile-Onset	Tremor, Chorea, Seizure, Hyperkinetic movements, Hemiballismus, Frequent falls	OMIM:616921
Leigh Syndrome	Ataxia, Pigmentary retinopathy, Gliosis, Dystonia, CNS demyelination, Spasticity, Hypertrichosis	OMIM:256000
Classic Phenylketonuria	Hypopigmentation of hair, Tremor, Paraplegia, Seizure, Hypertonia, Hemiplegia, Hypopigmentation o...	ORPHA:79254
Pontocerebellar Hypoplasia, Type 4	Hypertonia, Gliosis, Myoclonus, Dysphagia, Spasticity	OMIM:225753
Focal Facial Dermal Dysplasia Type I	Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen...	ORPHA:79133
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy	Spastic paraplegia, Ataxia, CNS hypomyelination	OMIM:619688
Spinocerebellar Ataxia Type 31	Cerebellar atrophy, Spasticity, Tremor, Gait ataxia	ORPHA:217012
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures	Rigidity, CNS hypomyelination, Choreoathetosis, Hypertonia, High palate	OMIM:620023
Developmental And Epileptic Encephalopathy 86	Dystonia, CNS hypomyelination	OMIM:618910
Deafness, Autosomal Recessive 118, With Cochlear Aplasia	Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia	OMIM:619553
Dystonia 27	Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy...	OMIM:616411
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105500
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy	Cerebellar atrophy, Delayed CNS myelination, Babinski sign, Cerebral atrophy, Pigmentary retinopa...	OMIM:619090
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity	Lower limb spasticity, Ataxia, Babinski sign, Spastic diplegia, CNS hypomyelination	OMIM:615281
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis, Tremor	ORPHA:66633
Combined Oxidative Phosphorylation Deficiency 24	Cerebellar atrophy, CNS hypomyelination, Neurodegeneration, Gliosis, Spasticity, Neuronal loss in...	OMIM:616239
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5	Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:311070
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Vogt-Koyanagi-Harada Disease	Abnormal eyebrow morphology, Sparse scalp hair, Poliosis, Abnormal eyelash morphology, Hypopigmen...	ORPHA:3437
Segawa Syndrome, Autosomal Recessive	Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo...	OMIM:605407
Hypertrichosis Lanuginosa Congenita	Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow	ORPHA:2222
Microcephaly 10, Primary, Autosomal Recessive	Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Hypertonia, Gliosis, Spasticity	OMIM:615095
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Sparse eyebrow, Syno...	OMIM:617193
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures	Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Tremor, Generalized myoclo...	OMIM:618587
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Synophrys, Cerebral atrophy, CNS hypomyelina...	OMIM:619260
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation	ORPHA:1355
Oculocutaneous Albinism Type 4	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin...	ORPHA:79435
Parkinsonism-Dystonia 1, Infantile-Onset	Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog...	OMIM:613135
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive	Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology	OMIM:605253
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Charcot-Marie-Tooth Disease, Axonal, Type 2I	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration	OMIM:607677
Epilepsy, Familial Adult Myoclonic, 5	Bilateral tonic-clonic seizure, Tremor, Focal sensory seizure with visual features, Focal impaire...	OMIM:615400
Charcot-Marie-Tooth Disease, Axonal, Type 2J	Peripheral demyelination, Axonal degeneration/regeneration, Dysphagia	OMIM:607736
Charcot-Marie-Tooth Disease, Recessive Intermediate D	Onion bulb formation	OMIM:616039
Combined Saposin Deficiency	Babinski sign, Hyperkinetic movements, Myoclonus, Fasciculations, CNS demyelination, Neuronal los...	OMIM:611721
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ...	ORPHA:412066
Spinocerebellar Ataxia Type 20	Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma...	ORPHA:101110
Parkinson Disease 2, Autosomal Recessive Juvenile	Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Dystonia	OMIM:600116
Multiple Mitochondrial Dysfunctions Syndrome 5	Pigmentary retinopathy, Delayed myelination, Leukodystrophy, Spasticity	OMIM:617613
Charcot-Marie-Tooth Disease, Axonal, Type 2H	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607731
Pelizaeus-Merzbacher Disease, Classic Form	Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Titubation, Athetosis, Abnormality of extr...	ORPHA:280219
Pontocerebellar Hypoplasia Type 1	Degeneration of anterior horn cells, Optic atrophy, Cerebral cortical atrophy	ORPHA:2254
Infantile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Generalized-onset seizure, Ataxia, Increased neuronal autofluorescent lipopig...	ORPHA:79263
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de...	OMIM:608340
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hypopigmentation of hair, Ataxia, Seizure, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:411515
Dystonia 3, Torsion, X-Linked	Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic...	OMIM:314250
Spinocerebellar Ataxia 18	Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia...	OMIM:607458
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst...	ORPHA:98807
Epilepsy, Familial Adult Myoclonic, 4	Tremor, Seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:615127
Deafness, Autosomal Dominant 9	Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment	OMIM:601369
Optic Atrophy 3, Autosomal Dominant	Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function	OMIM:165300
Ddost-Cdg	Tremor, Oromotor apraxia, Gastroesophageal reflux, CNS hypomyelination	ORPHA:300536
Leukodystrophy, Hypomyelinating, 22	Lower limb hypertonia, Babinski sign, Upper limb hypertonia, CNS hypomyelination	OMIM:619328
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions	Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction	ORPHA:401901
Spinocerebellar Ataxia 40	Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Pontocerebellar atrophy, Dysdiadochokinesis...	OMIM:616053
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ...	OMIM:605285
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Delayed CNS myelination, CNS hypomyelination, Hypertonia, Gastroesophageal reflux, Spasticity	OMIM:616577
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Facial palsy	OMIM:615348
Amyotrophic Lateral Sclerosis 21	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m...	OMIM:606070
Neurodegeneration With Brain Iron Accumulation 7	Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Dysphagia...	OMIM:617916
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant	Ataxia, Symmetric peripheral demyelination, Bowel incontinence, Corpus callosum atrophy, Babinski...	OMIM:169500
Charcot-Marie-Tooth Disease, Axonal, Type 2L	Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy	OMIM:608673
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy	OMIM:617892
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Neuropathy, Hereditary Sensory, X-Linked	Decreased number of peripheral myelinated nerve fibers	OMIM:310470
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy	Cerebral atrophy, High palate, Cerebellar vermis atrophy, CNS hypomyelination	OMIM:615760
Huntington Disease-Like 1	Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai...	ORPHA:157941
Glucocorticoid Deficiency 5	Hyperpigmentation of the skin	OMIM:617825
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Delayed CNS myelination, Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, ...	OMIM:614498
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616437
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement	Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls	ORPHA:494526
Developmental And Epileptic Encephalopathy 29	Chorea, Cerebral atrophy, CNS hypomyelination, Blepharospasm, Limb dystonia, Spasticity	OMIM:616339
Lethal Congenital Contracture Syndrome 8	Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis, Oral-pharyngeal dysphagia	OMIM:616287
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:608030
Deafness-Vitiligo-Achalasia Syndrome	Achalasia, Hypopigmented skin patches	ORPHA:3239
Xeroderma Pigmentosum Variant	Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin	ORPHA:90342
Adenylosuccinase Deficiency	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, CNS hypomyelination, Opisthotonus, Myoclonus, ...	OMIM:103050
Charcot-Marie-Tooth Disease, Type 4J	Axonal loss, Onion bulb formation, Peripheral hypomyelination, Frequent falls	OMIM:611228
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties	Delayed CNS myelination, High palate, Myoclonus, CNS hypomyelination	OMIM:616158
Charcot-Marie-Tooth Disease, Type 4H	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Peripheral hypomyel...	OMIM:609311
Spastic Paraplegia 6, Autosomal Dominant	Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ...	OMIM:600363
Rapid-Onset Dystonia-Parkinsonism	Cerebellar atrophy, Resting tremor, Torticollis, Limb dystonia, Parkinsonism, Gait ataxia, Bradyk...	ORPHA:71517
Spinocerebellar Ataxia 7	Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Pigmentary retinopathy, Progressive cere...	OMIM:164500
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:177910
Spastic Paraplegia 11, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Degenerati...	OMIM:604360
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Esophageal atresia, Hydrocephalus, Tracheoesophagea...	ORPHA:59315
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Jejunal atresia, High, narrow palate, Spasticity, Narrow palate, Myoclonus, Cerebral hypomyelinat...	OMIM:612949
Adult Neuronal Ceroid Lipofuscinosis	Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Seizure, Abnormality of extrapyramidal motor...	ORPHA:79262
Multiple Mitochondrial Dysfunctions Syndrome 4	Spasticity, Leukodystrophy	OMIM:616370
Haddad Syndrome	Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Spinocerebellar Ataxia Type 38	Cerebellar atrophy, Tremor, Gait ataxia	ORPHA:423296
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Ring Chromosome 10 Syndrome	Aganglionic megacolon	ORPHA:1438
Developmental And Epileptic Encephalopathy 75	Babinski sign, Spasticity, CNS hypomyelination, Frontal cortical atrophy, Cerebral cortical atrophy	OMIM:618437
Developmental And Epileptic Encephalopathy 93	Cerebellar atrophy, Spastic tetraparesis, Cerebral atrophy, CNS hypomyelination	OMIM:618012
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Spastic Ataxia 2, Autosomal Recessive	Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral...	OMIM:611302
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o...	ORPHA:79414
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Babinski sign, Narrow palate, CNS hypomyelination, High palate, Gastroesophag...	OMIM:618186
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Bilateral tonic-clonic seizure with generalized onset, Ge...	ORPHA:2590
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Cerebral Creatine Deficiency Syndrome 2	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Tremor, Rigidity, Paraparesis, Epi...	OMIM:612736
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Chronic Inflammatory Demyelinating Polyneuropathy	Peripheral demyelination, Segmental peripheral demyelination/remyelination	ORPHA:2932
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia	Leukodystrophy, Dystonia	OMIM:616763
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy	Ataxia, Abnormal pyramidal sign, Leukodystrophy, Dystonia	OMIM:619196
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Cerebellar atrophy, Ataxia, Head titubation, Dysmetria, CNS hypomyelination, Dysphagia, Inflammat...	OMIM:619708
Glycosylphosphatidylinositol Biosynthesis Defect 15	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Generalized non-motor ...	OMIM:617810
Deafness, X-Linked 2	Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori...	OMIM:304400
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Highly arched eyebrow, Low anterior hairline, CNS hypomyelination, Bifid uvula, Hypertonia, Lumba...	OMIM:618622
Atypical Pantothenate Kinase-Associated Neurodegeneration	Limb dystonia, Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Fo...	ORPHA:216873
Goldberg-Shprintzen Megacolon Syndrome	Pachygyria, Aganglionic megacolon, Cleft palate	ORPHA:66629
Dystonia 11, Myoclonic	Tremor, Torticollis, Writer's cramp, Myoclonus	OMIM:159900
Idiopathic Localized Lipodystrophy	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:90158
Metachromatic Leukodystrophy	Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Seizure, Dystonia...	OMIM:250100
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Generalized hypopigmentation, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generaliz...	ORPHA:1816
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Facial diplegia, Respiratory failure, Dystonia,...	OMIM:611890
Hermansky-Pudlak Syndrome 3	Hypopigmentation of hair, Hypopigmentation of the skin, Albinism	OMIM:614072
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi...	OMIM:614399
Spinocerebellar Ataxia 48	Cerebellar atrophy, Dystonia, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Tremor, Chore...	OMIM:618093
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas...	OMIM:615157
Cochleosaccular Degeneration-Cataract Syndrome	Progressive sensorineural hearing impairment, Cochlear degeneration	ORPHA:3233
Lopes-Maciel-Rodan Syndrome	Cerebellar atrophy, Caudate atrophy, Dystonia, Tremor, Abnormal pyramidal sign, Cerebral atrophy,...	OMIM:617435
Alzheimer Disease, Familial, 1	Neurofibrillary tangles	OMIM:104300
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Charcot-Marie-Tooth Disease, Axonal, Type 2B1	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for...	OMIM:605588
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon	ORPHA:261222
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Oculocutaneous Albinism Type 1B	Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck...	ORPHA:79434
Machado-Joseph Disease	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babi...	OMIM:109150
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Broad eyebrow, Ataxia, Severe demyelination of the white matter, CNS hypomyelination, High palate...	ORPHA:481152
Cerebrooculofacioskeletal Syndrome 1	Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Neurodegeneration, Gliosis, Br...	OMIM:214150
Posterior Column Ataxia With Retinitis Pigmentosa	Bone spicule pigmentation of the retina, Ataxia, Optic atrophy, Pigmentary retinopathy, Achalasia...	OMIM:609033
Charcot-Marie-Tooth Disease, Type 4B2	Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera...	OMIM:604563
Congenital Ptosis	Cafe-au-lait spot, Piebaldism, Long eyelashes	ORPHA:91411
Beta-Propeller Protein-Associated Neurodegeneration	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br...	ORPHA:329284
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Spinocerebellar Ataxia Type 37	Tremor, Cogwheel rigidity, Dysdiadochokinesis, Myoclonus, Truncal ataxia, Diffuse cerebellar atro...	ORPHA:363710
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Spinocerebellar Ataxia 12	Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi...	OMIM:604326
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Spasticity, Diffuse demyelination of ...	ORPHA:168486
Giant Axonal Neuropathy 1, Autosomal Recessive	Decreased number of peripheral myelinated nerve fibers, Curly hair, Facial palsy, Spastic paraple...	OMIM:256850
Autosomal Dominant Spastic Ataxia Type 1	Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ...	ORPHA:251282
Spinocerebellar Ataxia Type 12	Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign...	ORPHA:98762
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Hypopigmentation of hair, Aganglionic megacolon, Ileus, Hypopigmente...	ORPHA:163746
Alzheimer Disease, Familial Early-Onset, With Coexisting Amyloid And Prion Pathology	Neurofibrillary tangles	OMIM:605055
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Epilepsy, Familial Adult Myoclonic, 1	Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tremor	OMIM:601068
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis	Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Myoclon...	ORPHA:314632
Retinal Dystrophy With Leukodystrophy	Truncal titubation, Cleft palate, Dysmetria, CNS hypomyelination	OMIM:618863
Hermansky-Pudlak Syndrome 1	Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n...	OMIM:203300
Dystonia-Parkinsonism-Hypermanganesemia Syndrome	Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Cerebral atrophy, Ankle cl...	ORPHA:521406
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Cerebellar atrophy, Ataxia, Dysmetria, CNS hypomyelination, Leukodystrophy, Dysphagia, Spasticity...	OMIM:619576
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Alpha-Methylacyl-Coa Racemase Deficiency	Ataxia, Tremor, Focal-onset seizure, Hemiparesis, Pigmentary retinopathy, Seizure, Status epilept...	OMIM:614307
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Cerebellar atrophy, Ataxia, Tremor, Hirsutism, Dysmetria, Gait ataxia, Dysdiadochokinesis, Trunca...	OMIM:610185
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Autosomal Recessive Spastic Paraplegia Type 44	Lower limb spasticity, Ataxia, CNS hypomyelination	ORPHA:320401
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features	Ataxia, Tremor, Babinski sign, Spastic paraplegia, Xerostomia, Dysmetria, CNS hypomyelination, Sp...	OMIM:618527
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B	Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona...	OMIM:617087
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Respiratory failure	OMIM:618637
Developmental And Epileptic Encephalopathy 97	Tremor, Seizure, Epileptic spasm	OMIM:619561
Parkinson Disease 15, Autosomal Recessive Early-Onset	Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,...	OMIM:260300
Spastic Paraplegia 50, Autosomal Recessive	Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, High palate, Glio...	OMIM:612936
Developmental And Epileptic Encephalopathy 42	Bilateral tonic-clonic seizure, Ataxia, Tonic seizure, Tremor, Focal tonic seizure, Myoclonic sei...	OMIM:617106
Neurodegeneration With Brain Iron Accumulation 2A	Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral atrophy, Neuro...	OMIM:256600
Hyperphenylalaninemia, Bh4-Deficient, C	Dystonia, Tremor, Choreoathetosis, Seizure, Hypertonia, Myoclonus, Dysphagia	OMIM:261630
Pelizaeus-Merzbacher Disease, Connatal Form	Lower limb spasticity, Ataxia, Titubation, Gliosis, Abnormal myelination, Cerebral hypomyelination	ORPHA:280210
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Cerebellar atrophy, Delayed CNS myelination, Hypopigmentation of hair, Cafe-au-lait spot, Hypopig...	OMIM:618541
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema	Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment...	ORPHA:158681
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	White hair, Aganglionic megacolon, Fine hair, Malabsorption	ORPHA:935
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Optic atrophy, Respiratory failure, Aspiration pneumonia	OMIM:619057
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin, Hypoglycemic seizures	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin, Hypoglycemic seizures	ORPHA:71526
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome	Delayed CNS myelination, Dystonia, Gastroparesis, Parkinsonism, Bowel incontinence, Tremor, Rigid...	OMIM:618877
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea, Dystonia	OMIM:616277
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:600274
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tonic seizure, Tremor, Rigidity, Dysmetria, G...	OMIM:618090
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Peripheral axonal degeneration, Cerebellar atrophy, Dystonia, Ataxia, Decreased number of large p...	OMIM:208920
Cartilage-Hair Hypoplasia	Anal stenosis, Aganglionic megacolon, Sparse facial hair, Sparse eyelashes, Malabsorption, Sparse...	OMIM:250250
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Dravet Syndrome	Photosensitive tonic-clonic seizure, Progressive gait ataxia, Status epilepticus without prominen...	ORPHA:33069
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K	Peripheral demyelination	ORPHA:99944
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-...	ORPHA:98795
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Spastic tetraparesis, Tremor, Optic atrophy, Seizure, Small nail	OMIM:619470
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome	Lower limb spasticity, Bilateral tonic-clonic seizure, Ataxia, Delayed peripheral myelination, Ce...	ORPHA:464282
Neuropathy, Congenital Hypomyelinating, 2	Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation	OMIM:618184
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells	OMIM:253550
Autosomal Recessive Spastic Paraplegia Type 23	Bowel incontinence, Silver-gray hair, Spastic paraplegia, Seizure, Multiple lentigines, Spastic g...	ORPHA:101003
Classic Glucose Transporter Type 1 Deficiency Syndrome	Choreoathetosis, Central apnea, Cyanosis, Dystonia	ORPHA:71277
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Myelomeningocele, Hydrocephalus, Opisthotonus, Cervical myelopathy, Inspi...	OMIM:207950
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Peroxisomal Acyl-Coa Oxidase Deficiency	Babinski sign, Dysphagia, Pigmentary retinopathy, Hypertonia, Leukodystrophy, Dystonia, CNS demye...	OMIM:264470
Epilepsy, Familial Adult Myoclonic, 3	Tremor, Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus	OMIM:613608
Giant Axonal Neuropathy 2, Autosomal Dominant	Peripheral axonal neuropathy, Onion bulb formation	OMIM:610100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18	Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Cerebral atrophy, CNS hypom...	OMIM:615356
X-Linked Creatine Transporter Deficiency	Ileus, Aganglionic megacolon	ORPHA:52503
Huppke-Brendel Syndrome	Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination	OMIM:614482
Tangier Disease	Peripheral axonal neuropathy, Facial diplegia, Nail dystrophy, Nail dysplasia, Peripheral demyeli...	OMIM:205400
Adult Krabbe Disease	Ataxia, Progressive spastic paraparesis, Hoffmann sign, Babinski sign, Clumsiness, Tetraparesis, ...	ORPHA:206448
Menkes Disease	Alopecia, Brittle hair, Epileptic spasm, Babinski sign, Seizure, Hypertonia, Sparse hair, Hypopig...	OMIM:309400
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Aganglionic megacolon, Cleft palate	ORPHA:220497
Charcot-Marie-Tooth Disease Type 4G	Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating peripheral neuropathy	ORPHA:99953
Autoimmune Disease, Susceptibility To, 1	Vitiligo	OMIM:607836
Supranuclear Palsy, Progressive, 1	Limb dystonia, Eyelid apraxia, Axial dystonia, Parkinsonism, Neurofibrillary tangles, Tremor, Rig...	OMIM:601104
Diabetes Insipidus, Neurohypophyseal	Gliosis	OMIM:125700
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Cerebellar atrophy, Hypoplastic toenails, Cerebral atrophy, High palate, Gliosis, Brain atrophy, ...	OMIM:604377
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Neurodegeneration With Brain Iron Accumulation 6	Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Neurodegeneration, Spastic paraparesis, Or...	OMIM:615643
Infantile Sialic Acid Storage Disease	Seizure, Fair hair, Hypopigmentation of the skin, Cerebral atrophy	OMIM:269920
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Tremor, Low anterior hairline,...	OMIM:218000
Severe Neurodegenerative Syndrome With Lipodystrophy	Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop...	ORPHA:363400
Dyskinesia With Orofacial Involvement, Autosomal Recessive	Tremor, Frequent falls, Myoclonus, Dystonia	OMIM:619647
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Facial palsy	OMIM:604801
Immunodeficiency 83, Susceptibility To Viral Infections	Hemiparesis, Gliosis	OMIM:613002
Epilepsy, Progressive Myoclonic, 6	Bilateral tonic-clonic seizure, Ataxia, Tremor, Generalized non-motor (absence) seizure, Myoclonu...	OMIM:614018
Leukoencephalopathy, Progressive, With Ovarian Failure	Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Dystonia, Spasticity, ...	OMIM:615889
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Aganglionic megacolon	ORPHA:2318
Spinocerebellar Ataxia, Autosomal Recessive 16	Cerebellar atrophy, Tremor, Babinski sign, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity	OMIM:615768
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Neurodevelopmental Disorder With Involuntary Movements	Cerebellar atrophy, Delayed CNS myelination, Dystonia, Involuntary movements, Chorea, Cerebral at...	OMIM:617493
Progressive Supranuclear Palsy	Tremor, Rigidity, Dysphagia, Blepharospasm, Bradykinesia, Gliosis, Dystonia, Neuronal loss in cen...	ORPHA:683
Sandhoff Disease, Infantile Form	Exaggerated startle response, CNS hypomyelination, Myoclonus, Spasticity, Cerebral cortical atrophy	ORPHA:309155
Al-Raqad Syndrome	Gait ataxia, Seizure, Hypopigmentation of the skin, Chronic constipation	OMIM:616459
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3	Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo...	OMIM:618387
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Developmental And Epileptic Encephalopathy 32	Ataxia, Tremor, Myoclonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3...	OMIM:616366
Spinocerebellar Ataxia 25	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Ataxia, Babinski sign...	OMIM:608703
Focal Facial Dermal Dysplasia Type Iii	Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,...	ORPHA:1807
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Decreased nerve conduction velocity, Axonal degeneration, Degeneration of anterior horn cells	OMIM:604320
Opticocochleodentate Degeneration	Cochlear degeneration, Hearing impairment	OMIM:258700
Obesity And Hypopigmentation	Red hair	OMIM:620195
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hypopigmentation of hair, Ataxia, Tremor, Delayed myelination, Seizure, Constipation, Myoclonus, ...	ORPHA:98794
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Protruding tongue, Gait ataxia, Choreoatheto...	OMIM:619580
Vascular Hyalinosis	Hematochezia, Premature graying of hair, Protein-losing enteropathy, Malabsorption	OMIM:277175
Charcot-Marie-Tooth Disease Type 2B1	Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel...	ORPHA:98856
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Dysph...	OMIM:619847
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:612069
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Joubert Syndrome	Encephalocele, Hydrocephalus, Aganglionic megacolon	ORPHA:475
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Premature graying of hair, Seizure, Hypertonia, Iris ...	ORPHA:79477
American Trypanosomiasis	Achalasia, Aganglionic megacolon	ORPHA:3386
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Methionine Malabsorption Syndrome	Seizure, Diarrhea, White hair, Blue irides	OMIM:250900
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Developmental Delay And Seizures With Or Without Movement Abnormalities	Ataxia, Bilateral tonic-clonic seizure, Tremor, Rigidity, Bradykinesia, Dystonia, Generalized myo...	OMIM:617836
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Highly arched eyebrow, Sacral hypertrichosis, Brain atrophy, Limb dystonia, Global brain atrophy,...	ORPHA:457351
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Spinocerebellar Ataxia Type 14	Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cerebellar ...	ORPHA:98763
Basal Ganglia Calcification, Idiopathic, 1	Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Seizure, Athetosis...	OMIM:213600
Hsd10 Disease	Ataxia, Tremor, Rigidity, Optic atrophy, Frontotemporal cerebral atrophy, Seizure, Choreoathetosi...	ORPHA:391417
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	ORPHA:600
Charcot-Marie-Tooth Disease, Type 4B1	Myelin outfoldings, Irregular myelin loops, Facial palsy	OMIM:601382
Pontocerebellar Hypoplasia, Type 1A	Degeneration of anterior horn cells, Basal ganglia gliosis, Cerebral cortical atrophy	OMIM:607596
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:276950
Hemimegalencephaly	Hemiparesis, Gliosis, Myoclonus	ORPHA:99802
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism	OMIM:614171
Odontotrichoungual-Digital-Palmar Syndrome	Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture	OMIM:601957
Neurodegeneration With Brain Iron Accumulation 3	Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoat...	OMIM:606159
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Ataxia, Sparse eyebrow, Tetraplegia, Dysphagia, Fasciculations, Progressive s...	ORPHA:496641
Phenylketonuria	Generalized hypopigmentation, Fair hair, Blue irides, Seizure	OMIM:261600
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Delayed CNS myelination, Diffuse cerebral atrophy, Clonus, Hypertonia, Dysphagia, Spasticity	OMIM:613668
Coenzyme Q10 Deficiency, Primary, 4	Epilepsia partialis continua, Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Seizur...	OMIM:612016
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Aganglionic megacolon, Cleft palate	ORPHA:220493
Congenital Alveolar Capillary Dysplasia	Aganglionic megacolon, Intestinal malrotation, Tracheoesophageal fistula, Duodenal stenosis, Volv...	ORPHA:210122
Oculocutaneous Albinism Type 1	White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect...	ORPHA:352731
Angelman Syndrome	Ataxia, Blue irides, Limb tremor, Clumsiness, Seizure, Progressive gait ataxia, Constipation, Fai...	OMIM:105830
Pontocerebellar Hypoplasia, Type 7	Ataxia, Synophrys, Spastic paraplegia, Optic atrophy, Cerebral atrophy, Opisthotonus, Choreoathet...	OMIM:614969
Progressive Supranuclear Palsy-Corticobasal Syndrome	Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dy...	ORPHA:240103
Angelman Syndrome	Optic disc pallor, Ataxia, Atonic seizure, Infantile spasms, Cerebral dysmyelination, Tremor, Opt...	ORPHA:72
Cln5 Disease	Cerebellar atrophy, Generalized-onset seizure, Abnormal central motor function, Ataxia, Atrophy/D...	ORPHA:228360
Mannosidosis, Alpha B, Lysosomal	Cerebellar atrophy, Corpus callosum atrophy, Delayed myelination, Babinski sign, Low anterior hai...	OMIM:248500
Obesity, Hyperphagia, And Developmental Delay	Seizure, Delayed myelination, Generalized non-motor (absence) seizure	OMIM:613886
Lichen Planopilaris	Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Abnormal intestine morpholo...	ORPHA:525
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Hydrocephalus, Cleft palate, Anteriorly placed anus, Abnormal rectum morph...	OMIM:239300
Spinal Muscular Atrophy, Type Iii	Degeneration of anterior horn cells	OMIM:253400
Abetalipoproteinemia	CNS demyelination, Ataxia, Peripheral demyelination	OMIM:200100
Oculocutaneous Albinism Type 1A	Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri...	ORPHA:79431
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Seizure, Abnormal myelination	ORPHA:85179
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Adrenoleukodystrophy	Alopecia, Incoordination, Bowel incontinence, Paraparesis, Spastic paraplegia, Slurred speech, Li...	OMIM:300100
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency	Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Seizure, Progressive cerebellar ataxia, Myoc...	ORPHA:139485
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal atresia, Anal stenosis, Aganglionic megacolon, Cleft palate	OMIM:614749
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Parkinson Disease 1, Autosomal Dominant	Resting tremor, Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Gliosis, Myoclonus, Dystonia, Gl...	OMIM:168601
Familial Visceral Myopathy	Umbilical hernia, Aganglionic megacolon, Cleft palate	ORPHA:2604
Neurodegeneration With Brain Iron Accumulation 5	Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Sei...	OMIM:300894
Pick Disease Of Brain	Neuronal loss in central nervous system, Gliosis	OMIM:172700
Progressive Multifocal Leukoencephalopathy	Abnormal astrocyte morphology, Abnormal oligodendroglia morphology	ORPHA:217260
Hyperekplexia 4	Umbilical hernia, Respiratory failure	OMIM:618011
Leukoencephalopathy, Cystic, Without Megalencephaly	Ataxia, Athetosis, Abnormal CNS myelination, Dystonia, Spasticity	OMIM:612951
Glutamine Deficiency, Congenital	Brain atrophy, CNS hypomyelination	OMIM:610015
Leukodystrophy, Hypomyelinating, 17	Cerebellar atrophy, Cerebral atrophy, Hirsutism, Leukodystrophy	OMIM:618006
Trichothiodystrophy 8, Nonphotosensitive	Delayed CNS myelination, Sparse eyebrow, Head titubation, Babinski sign, Craniofacial dystonia, S...	OMIM:619691
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Hepatic Veno-Occlusive Disease	Jaundice, Respiratory failure	ORPHA:890
Branchiootic Syndrome 1	Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea...	OMIM:602588
Lissencephaly 8	Appendicular spasticity, Cerebral hypomyelination	OMIM:617255
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Down Syndrome	Aganglionic megacolon, Protruding tongue, Narrow palate, Macroglossia, Umbilical hernia, Anal atr...	ORPHA:870
Pelizaeus-Merzbacher Disease In Female Carriers	Lower limb spasticity, Babinski sign, CNS hypomyelination, Spastic paraparesis, Hand apraxia	ORPHA:280229
Combined Oxidative Phosphorylation Deficiency 11	Delayed myelination, CNS hypomyelination, Myoclonus, Tongue fasciculations, Cerebral cortical atr...	OMIM:614922
Spinocerebellar Ataxia 50	Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ...	OMIM:620158
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Restrictive ventilatory defect, Respir...	ORPHA:98913
Riboflavin Transporter Deficiency	Optic disc pallor, Ataxia, Facial palsy, Tremor, Abnormal cranial nerve morphology, Seizure, Myoc...	ORPHA:97229
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Dysphagia, Megaduodenum, Microcolon	OMIM:155310
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Mitochondrial Complex Iv Deficiency, Nuclear Type 6	Lower limb spasticity, Gliosis	OMIM:615119
Molybdenum Cofactor Deficiency, Complementation Group B	Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Spastic tetraplegia, Cerebral atrophy, ...	OMIM:252160
Cronkhite-Canada Syndrome	Intestinal polyposis, Alopecia, Generalized hyperpigmentation, Abnormal fingernail morphology, Ma...	ORPHA:2930
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Pontocerebellar Hypoplasia, Type 2A	Chorea, Dysphagia, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, Dystonia, Cerebral cortical ...	OMIM:277470
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif...	OMIM:610921
Orofaciodigital Syndrome Xvii	High, narrow palate, CNS hypomyelination	OMIM:617926
Spastic Paraplegia 79B, Autosomal Recessive	Cerebellar atrophy, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sig...	OMIM:615491
Behr Syndrome	Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Truncal ataxia, Dysmetria, Chro...	OMIM:210000
Leukodystrophy, Hypomyelinating, 19, Transient Infantile	Delayed CNS myelination, Ataxia, Head titubation, Babinski sign, Dysmetria, Leukodystrophy, Inten...	OMIM:618688
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form	Abnormality of hair texture, Delayed myelination, Spastic tetraplegia, Athetosis, Hypertonia, Gas...	ORPHA:79351
Dystonia 28, Childhood-Onset	Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Spasticity, Laryng...	OMIM:617284
Inherited Creutzfeldt-Jakob Disease	Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py...	ORPHA:282166
S-Adenosylhomocysteine Hydrolase Deficiency	CNS hypomyelination, Delayed myelination, Hepatocellular carcinoma, Abnormality of hair texture	ORPHA:88618
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Cerebellar atrophy, Delayed CNS myelination, Exaggerated startle response, CNS hypomyelination, H...	OMIM:618367
Spastic Ataxia, Charlevoix-Saguenay Type	Progressive truncal ataxia, Spastic ataxia, Ataxia, Decreased number of large peripheral myelinat...	OMIM:270550
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Head titubation, Vestibular areflexia, Respiratory failure, ...	ORPHA:3240
X-Linked Parkinsonism-Spasticity Syndrome	Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki...	ORPHA:363654
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ataxia, Cerebellar gliosis, Cerebral atrophy, Gastroesophageal reflux, Gliosis, Dystonia, Basal g...	ORPHA:79243
Leukodystrophy, Hypomyelinating, 9	Lower limb spasticity, Ataxia, Babinski sign, Cerebral atrophy, Dysmetria, Pseudobulbar paralysis...	OMIM:616140
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Frequent falls, Onion bulb formation, Facial palsy	OMIM:607684
Congenital Muscular Dystrophy With Intellectual Disability	Pigmentary retinopathy, Respiratory failure, Facial palsy, Respiratory insufficiency	ORPHA:370968
Oligodontia-Colorectal Cancer Syndrome	Sparse scalp hair, Absent eyebrow, Sparse axillary hair, Adenomatous colonic polyposis, Colon can...	OMIM:608615
Autosomal Recessive Spastic Paraplegia Type 70	Abnormal myelination	ORPHA:401835
Parkinsonism-Dystonia 3, Childhood-Onset	Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic move...	OMIM:619738
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer...	OMIM:606353
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy	Decreased number of peripheral myelinated nerve fibers	OMIM:607080
Coenzyme Q10 Deficiency, Primary, 9	Cerebellar atrophy, Lower limb spasticity, Bilateral tonic-clonic seizure with generalized onset,...	OMIM:619028
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:608627
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration	ORPHA:803
Non-Specific Early-Onset Epileptic Encephalopathy	Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Cere...	ORPHA:442835
Darier Disease	Hypermelanotic macule, Abnormal hair morphology, Anal mucosal leukoplakia, Abnormality of skin pi...	ORPHA:218
Alzheimer Disease 3	Spastic tetraparesis, Neurofibrillary tangles, Babinski sign, Dysphagia, Abnormality of extrapyra...	OMIM:607822
Neurodevelopmental Disorder With Language Delay And Seizures	Diffuse cerebral atrophy, CNS hypomyelination	OMIM:619908
Peho Syndrome	Cerebellar atrophy, Optic atrophy, Seizure, Myoclonus, Peripheral dysmyelination, Neuronal loss i...	OMIM:260565
Mitochondrial Dna-Associated Leigh Syndrome	Dystonia, Bilateral tonic-clonic seizure, Ataxia, Infantile spasms, Segmental peripheral demyelin...	ORPHA:255210
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Abnormal myelina...	ORPHA:289266
Orofaciodigital Syndrome V	Aganglionic megacolon, Hamartoma of tongue, Optic disc coloboma, Cleft palate, Lobulated tongue, ...	OMIM:174300
Ataxia-Telangiectasia	Hypopigmentation of hair, Ataxia, Tremor, Premature graying of hair, Seizure, Multiple cafe-au-la...	ORPHA:100
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome	Tremor, Babinski sign, Spastic paraplegia, Seizure, Abnormal CNS myelination, Febrile seizure (wi...	ORPHA:477673
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Delayed CNS myelination, Bilateral tonic-clonic seizure, Ataxia, Parkinsonism, Ch...	OMIM:619725
Coenzyme Q10 Deficiency, Primary, 8	Peripheral demyelination	OMIM:616733
Supranuclear Palsy, Progressive, 2	Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Neurofibrillary tangles, Rigidity,...	OMIM:609454
Charcot-Marie-Tooth Disease, Type 4B3	Myelin outfoldings, Onion bulb formation, Brain atrophy	OMIM:615284
Autoimmune Polyendocrinopathy Type 2	Celiac disease, Alopecia, Hypopigmented skin patches	ORPHA:3143
Lichen Planus Pemphigoides	Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Glutaric Acidemia I	Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Seizure, Symmetri...	OMIM:231670
Peroxisome Biogenesis Disorder 11A (Zellweger)	CNS hypomyelination	OMIM:614883
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome	Loss of eyelashes, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur...	ORPHA:2821
Leukodystrophy, Hypomyelinating, 16	Delayed CNS myelination, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Choreoathetosis, Hypert...	OMIM:617964
Limited Cutaneous Systemic Sclerosis	Abnormality of skin pigmentation, Gastroesophageal reflux, Hypopigmented skin patches, Dysphagia	ORPHA:220402
Sandhoff Disease	Exaggerated startle response, Ataxia, CNS hypomyelination, Macroglossia, Fasciculations, Spastici...	OMIM:268800
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Phakomatosis Pigmentovascularis	Seizure, Generalized hyperpigmentation, Cerebral cortical atrophy, Hypopigmented skin patches	ORPHA:2875
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati...	OMIM:104100
Immunodeficiency 26 With Or Without Neurologic Abnormalities	Brain atrophy, CNS hypomyelination	OMIM:615966
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Bifid uvula	ORPHA:2919
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Glut1 Deficiency Syndrome 2	Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Seizure, Dystonia	OMIM:612126
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Aganglionic megacolon, Supernumerary nipple, Highly arched eyebrow, Anteriorly placed anu...	ORPHA:247262
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Ataxia, Seizure, Dysphagia, Hypopigmentation of the skin, Iris hypopigm...	ORPHA:411511
Developmental And Epileptic Encephalopathy 46	Generalized-onset seizure, Tremor, Cerebral atrophy, Seizure, Dysphagia, Limb hypertonia	OMIM:617162
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Tremor, Peripheral axonal neuropathy, Ataxia	OMIM:619099
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Hyperkinetic movements, High palate, Upper limb spasticity, Gliosis	ORPHA:457240
Classic Pantothenate Kinase-Associated Neurodegeneration	Optic disc pallor, Generalized dystonia, Opisthotonus, Pigmentary retinopathy, Aspiration pneumon...	ORPHA:216866
Multiple Endocrine Neoplasia, Type Iia	Aganglionic megacolon	OMIM:171400
Developmental And Epileptic Encephalopathy 17	Delayed CNS myelination, Chorea, Cerebral atrophy, Athetosis, Dystonia	OMIM:615473
Naegeli-Franceschetti-Jadassohn Syndrome	Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera...	ORPHA:69087
Alg3-Cdg	Spastic tetraparesis, Seizure, Subcortical cerebral atrophy, Hypertonia, Brain atrophy, Dystonia,...	ORPHA:79321
Alg2-Cdg	Cerebral hypomyelination	ORPHA:79326
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Tremor, Dysmyelinating leukodys...	ORPHA:137898
Acquired Hypertrichosis Lanuginosa	Abnormal eyebrow morphology, Hypopigmentation of hair, Fine hair, Macroglossia, Glossitis, Genera...	ORPHA:2221
Corticobasal Syndrome	Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromotor apr...	ORPHA:454887
Multiple Sulfatase Deficiency	Cerebellar atrophy, Ataxia, Cerebral atrophy, CNS demyelination, Spasticity, Peripheral demyelina...	OMIM:272200
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure, Optic disc pallor	OMIM:618240
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Hemiparkinsonism-Hemiatrophy Syndrome	Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Cerebral cortical hemiatrophy, Brain a...	ORPHA:306669
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Aganglionic megacolon, Cleft palate	OMIM:614207
Hengel-Maroofian-Schols Syndrome	Cerebellar atrophy, Synophrys, Upper motor neuron dysfunction, Cerebral atrophy, Tetraplegia, Abn...	OMIM:619641
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Parkinsonism, Neurofibrillary tangles, Gliosis, Apraxia, Neuronal loss in central nervous system,...	OMIM:607485
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency	Ataxia, Tremor, Choreoathetosis, Seizure, Dystonia, Oculomotor apraxia, Spasticity	OMIM:612716
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa...	OMIM:312170
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow	ORPHA:261304
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Clonus, Clonic seizure, Synophrys, Abnormality of skin pigmentation, Hypertonia, Vomiting, Leukod...	OMIM:619475
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Cleft palate, Ectopic anus, Gastroesophageal reflu...	ORPHA:2059
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Hypopigmentation of hair, Generalized dystonia, Ataxia, Chorea, Seizure, Gastroesophageal reflux,...	ORPHA:70472
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, Babinski sign, Myoclonus, Apraxia, CNS demyelination, Cerebral cortical atrophy	OMIM:618193
Leukodystrophy, Hypomyelinating, 12	Cerebellar atrophy, Cerebral hypomyelination, Delayed myelination, Spasticity	OMIM:616683
Charcot-Marie-Tooth Disease, Type 4D	Axonal loss, Frequent falls, Onion bulb formation, Segmental peripheral demyelination/remyelination	OMIM:601455
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities	Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination, Hippocampal atrophy, Dysphagia, Limb h...	OMIM:618922
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Spinocerebellar Ataxia With Epilepsy	Bilateral tonic-clonic seizure with focal onset, Tremor, Optic atrophy, Dysmetria, Gait ataxia, P...	ORPHA:254881
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cerebellar atrophy, Abnormality of retinal pigmentation, Abnormal peripheral myelination, Tremor,...	ORPHA:466768
Spongiform Encephalopathy With Neuropsychiatric Features	Neurofibrillary tangles, Gliosis, Parkinsonism	OMIM:606688
Dystonia 12	Torticollis, Dystonia, Parkinsonism, Tremor, Bradykinesia, Dysphagia	OMIM:128235
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Autosomal Recessive Spastic Paraplegia Type 69	Abnormal myelination	ORPHA:401830
Tay-Sachs Disease	Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Dysmetria, Cl...	ORPHA:845
Autosomal Recessive Spastic Paraplegia Type 57	Abnormal myelination	ORPHA:431329
Intellectual Developmental Disorder, X-Linked 12	Tremor, Spasticity, Hyperkinetic movements, Gliosis	OMIM:300957
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus	Delayed CNS myelination, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Opisthotonus, ...	OMIM:619653
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ...	OMIM:620296
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Atypical Juvenile Parkinsonism	Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines...	ORPHA:391411
Chediak-Higashi Syndrome	Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocular albinism, Seizure, Giant melan...	OMIM:214500
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Optic atrophy, Dysmetria, Gait ataxia...	ORPHA:529665
Leigh Syndrome	Cerebellar atrophy, Alopecia, Ataxia, Involuntary movements, Chorea, Gastrointestinal dysmotility...	ORPHA:506
Spinocerebellar Ataxia, Autosomal Recessive 13	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Seizure, Dys...	OMIM:614831
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology	ORPHA:85451
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Seizure, Abnormal myelination	ORPHA:352682
Combined Oxidative Phosphorylation Deficiency 14	Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Gliosis, Myoclonus, Atrophy/Degen...	OMIM:614946
Cerebral Creatine Deficiency Syndrome 1	Ileus, Aganglionic megacolon	OMIM:300352
Neurodegeneration With Brain Iron Accumulation 8	Cerebellar atrophy, Ataxia, Tremor, Dysmetria	OMIM:617917
Molybdenum Cofactor Deficiency, Complementation Group A	Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Seizure, Axonal loss, ...	OMIM:252150
Autosomal Recessive Spastic Paraplegia Type 67	Abnormal myelination	ORPHA:401820
Parkinson Disease 13, Autosomal Dominant, Susceptibility To	Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia	OMIM:610297
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism	Resting tremor, Bilateral tonic-clonic seizure, Parkinsonism, Postural tremor, Rigidity, Focal mo...	OMIM:619911
Mohr-Tranebjaerg Syndrome	Tremor, Abnormal posturing, Dystonia	OMIM:304700
Griscelli Syndrome	Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair, White hair, H...	ORPHA:381
Hypomelanosis Of Ito	Macular hypopigmented whorls, streaks, and patches, Alopecia, Seizure, Cerebral atrophy	OMIM:300337
Neurodegeneration With Brain Iron Accumulation 2B	Cerebellar atrophy, Neurofibrillary tangles, Chorea, Babinski sign, Cerebral atrophy, Dysmetria, ...	OMIM:610217
Dystonia 1, Torsion, Autosomal Dominant	Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Torsion dystonia, Blepha...	OMIM:128100
Charcot-Marie-Tooth Disease, Axonal, Type 2R	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege...	OMIM:615490
Maternal Uniparental Disomy Of Chromosome X	Seizure, Hypopigmentation of the skin, Low posterior hairline	ORPHA:261519
Parkinson-Dementia Syndrome	Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism	OMIM:260540
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio...	ORPHA:999
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Cerebellar atrophy, Delayed CNS myelination, Multifocal seizures, Diffuse cerebral atrophy, Ataxi...	OMIM:617710
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia...	ORPHA:36238
Fucosidosis	Spastic tetraplegia, Cerebral atrophy, CNS hypomyelination, Macroglossia, Dystonia, Hemiplegia, S...	OMIM:230000
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Opisthotonus, Respiratory failure, Neonatal death, P...	OMIM:605711
Charcot-Marie-Tooth Disease, Recessive Intermediate C	Decreased number of large peripheral myelinated nerve fibers	OMIM:615376
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Xeroderma Pigmentosum, Complementation Group G	Tremor, Spasticity, Ataxia, Infantile spasms	OMIM:278780
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Central Hypoventilation Syndrome, Congenital, 1	Ineffective esophageal peristalsis, Aganglionic megacolon, Abnormal autonomic nervous system phys...	OMIM:209880
Sea-Blue Histiocytosis	Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:158029
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Hyperphenylalaninemia, Bh4-Deficient, A	Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Seizure, Bradykinesia, Hyperto...	OMIM:261640
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Tremor, Myelopathy, Bradypnea, Respiratory failure, Cervical myelopathy, Death in ch...	OMIM:617186
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Bilateral tonic-clonic seizure with generalized onset, Ataxia, Tremor, Focal-onset seizure, Myocl...	OMIM:619092
Spinocerebellar Ataxia, Autosomal Recessive 31	Dystonia, Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Seizure, Dysphagia	OMIM:619422
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Tremor, Cerebellar gliosis, Optic atrophy, Respiratory failure, Intention tremor	OMIM:616505
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Dystonia, Facial palsy, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Tr...	OMIM:607483
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3	Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia	OMIM:608033
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset	Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,...	OMIM:617145
Intermediate Nemaline Myopathy	Facial diplegia, Respiratory failure, Facial palsy	ORPHA:171433
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:615911
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp...	OMIM:614299
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Optic disc pallor, Tremor, Respiratory insufficiency due ...	OMIM:615512
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurode...	OMIM:618321
Breath-Holding Spells	Cyanosis	OMIM:607578
Spinocerebellar Ataxia Type 1	Postural tremor, Optic atrophy, Respiratory failure, Dystonia, Abnormal nerve conduction velocity...	ORPHA:98755
Gerstmann-Straussler Disease	Cerebellar atrophy, Parkinsonism, Neurofibrillary tangles, Tremor, Rigidity, Limb ataxia, Gait at...	OMIM:137440
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Lower limb spasticity, Clonus, Synophrys, Dysphagia, Hypertonia, Gastroesophageal reflux, Brain a...	ORPHA:447997
Neuropathy, Hereditary Sensory, Type Ie	Decreased number of peripheral myelinated nerve fibers, Ataxia, Cerebral atrophy	OMIM:614116
Ane Syndrome	Motor neuron atrophy, Hyperpigmentation of the skin, Hyperpigmented nevi	ORPHA:157954
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Leukoencephalopathy With Calcifications And Cysts	Ataxia, Tremor, Abnormal pyramidal sign, Focal motor seizure, Cerebral atrophy, Seizure, Dystonia...	ORPHA:542310
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Ataxia, Rigidity, Babinski sign, Abnormal pyramidal sign, Gait apraxia, Dysmetria, Abno...	OMIM:600142
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis, Opisthotonus	OMIM:250800
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Hydrocephalus, Aganglionic megacolon	OMIM:613603
Charcot-Marie-Tooth Disease Type 4A	Decreased number of large peripheral myelinated nerve fibers, Poor gross motor coordination, Poor...	ORPHA:99948
Duane-Radial Ray Syndrome	Anal stenosis, Aganglionic megacolon, Facial palsy, Spina bifida occulta, Anal atresia	OMIM:607323
Chronic Actinic Dermatitis	Progressive hyperpigmentation, Hypopigmented skin patches	ORPHA:330064
Spinal Muscular Atrophy, Type Iv	Degeneration of anterior horn cells	OMIM:271150
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C...	OMIM:272750
Allan-Herndon-Dudley Syndrome	Delayed CNS myelination, Ataxia, Clonus, Babinski sign, Spastic paraplegia, Spastic tetraplegia, ...	OMIM:300523
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Ataxia, Infantile spasms, Severe demyelination of the white matter, Atrophy of the spinal cord, O...	ORPHA:79282
Hyperphenylalaninemia, Bh4-Deficient, B	Dystonia, Tremor, Rigidity, Choreoathetosis, Seizure, Hyperkinetic movements, Dysphagia, Limb hyp...	OMIM:233910
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur...	ORPHA:320406
Mitochondrial Complex I Deficiency, Nuclear Type 15	Cerebellar atrophy, CNS demyelination, Spastic tetraplegia, Dystonia	OMIM:618237
East Syndrome	Cerebellar atrophy, Peripheral axonal neuropathy, Generalized-onset seizure, Ataxia, Seizure, Per...	ORPHA:199343
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Optic atrophy, Respiratory insufficiency	OMIM:615330
Classic Mycosis Fungoides	Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail	ORPHA:2584
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, High, narrow palate, Hypopigmented skin patches, Multiple cafe-au-lait ...	ORPHA:3214
Alzheimer Disease 9, Susceptibility To	Neurofibrillary tangles, Hippocampal atrophy, Abnormality of extrapyramidal motor function, Senil...	OMIM:608907
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Substantia nigra gliosis, Degeneratio...	ORPHA:276244
Gm2 Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Seizure, Progres...	ORPHA:309246
Large Congenital Melanocytic Nevus	Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,...	ORPHA:626
Ramos-Arroyo Syndrome	Aganglionic megacolon, Abnormal autonomic nervous system physiology, Xerostomia, Smooth tongue	ORPHA:1051
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Pleomorphic xanthoastrocytoma, Astrocytoma, Axillary freckling, Adenomat...	OMIM:276300
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Death in infancy, Aganglionic megacolon, Optic atrophy, Macroglossia, Gastroesophageal reflux, Vo...	ORPHA:847
Charcot-Marie-Tooth Disease, Axonal, Type 2K	Decreased number of peripheral myelinated nerve fibers, Axonal regeneration	OMIM:607831
Combined Oxidative Phosphorylation Deficiency 53	Spasticity, CNS hypomyelination	OMIM:619423
2,4-Dienoyl-Coa Reductase Deficiency	Cerebellar atrophy, Delayed CNS myelination, Incoordination, Ataxia, Clonus, Cerebral atrophy, Te...	OMIM:616034
Hypoadrenocorticism, Familial	Abnormality of skin pigmentation, Cyanosis, Apnea	OMIM:240200
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Seizure, Pontocerebell...	OMIM:618060
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Seizure, Hypopigmented skin patches	ORPHA:1825
Hereditary Late-Onset Parkinson Disease	Resting tremor, Parkinsonism, Rigidity, Dysphagia, Bradykinesia, Gliosis, Dystonia, Parkinsonism ...	ORPHA:411602
Pyruvate Carboxylase Deficiency	Ataxia, Tremor, Delayed myelination, Cerebellar gliosis, Abnormal pyramidal sign, CNS hypomyelina...	ORPHA:3008
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Adult-Onset Dystonia-Parkinsonism	Eyelid apraxia, Neurofibrillary tangles, Tremor, Rigidity, Parkinsonism with favorable response t...	ORPHA:199351
Aicardi-Goutieres Syndrome 6	Tremor, Rigidity, Leukodystrophy, Dystonia	OMIM:615010
Slc35A2-Cdg	Cerebellar atrophy, Infantile spasms, Spastic tetraparesis, Delayed myelination, Cerebral atrophy...	ORPHA:356961
Carney Complex, Type 1	Schwannoma, Multiple lentigines, Pheochromocytoma, Red hair, Freckling, Profuse pigmented skin le...	OMIM:160980
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Visceral Myopathy 2	Intestinal obstruction, Necrotizing enterocolitis, Intestinal pseudo-obstruction, Intestinal malr...	OMIM:619350
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, High, narrow palate, High palate, Aganglionic megacolon	OMIM:162300
Combined Oxidative Phosphorylation Deficiency 32	Cerebellar atrophy, Dystonia, Tremor, Optic atrophy, Choreoathetosis, Seizure, Constipation, Gast...	OMIM:617664
Attenuated Chédiak-Higashi Syndrome	Incoordination, Ocular albinism, Hypertonia, Abnormality of extrapyramidal motor function, Genera...	ORPHA:352723
Trigeminal Neuralgia	CNS demyelination, Cranial nerve compression, Peripheral demyelination	ORPHA:221091
Autosomal Recessive Cerebelloparenchymal Disorder Type 3	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Dysmetria,...	ORPHA:1170
Lissencephaly, X-Linked, 2	Spasticity, High palate, Gliosis	OMIM:300215
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Orthostatic hypotension	OMIM:263570
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology	ORPHA:1145
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Kufor-Rakeb Syndrome	Torticollis, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti...	OMIM:606693
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Cleft palate, Ectopic anus, High palate, Anal atresia	ORPHA:2473
Myoclonic-Astatic Epilepsy	Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Ataxia, Simple febrile se...	ORPHA:1942
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Jaberi-Elahi Syndrome	Appendicular spasticity, Brittle hair, Sparse eyelashes, Bilateral tonic-clonic seizure, Sparse e...	OMIM:617988
Primary Non-Essential Cutis Verticis Gyrata	Gliosis	ORPHA:357225
Chromosome 8Q21.11 Deletion Syndrome	Pigmentary retinopathy, High palate, Cleft palate, CNS hypomyelination	OMIM:614230
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Cleft palate, Glossoptosis, Leukod...	OMIM:620269
X-Linked Dystonia-Parkinsonism	Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem...	ORPHA:53351
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Highly arched eyebrow, Synophrys, Sparse hair, Thick eyebrow	OMIM:609460
Hoyeraal-Hreidarsson Syndrome	Sparse scalp hair, Generalized hyperpigmentation, Ataxia, Premature graying of hair, Hypertonia, ...	ORPHA:3322
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Primary Dystonia, Dyt2 Type	Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm...	ORPHA:99657
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Combined Oxidative Phosphorylation Defect Type 29	Bilateral tonic-clonic seizure, Optic neuropathy, Delayed myelination, Axonal degeneration, Poor ...	ORPHA:478029
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Dystonia, Spastic tetraparesis, Poor coordination, Optic atrophy, Spast...	ORPHA:391428
Oculocerebral Hypopigmentation Syndrome, Preus Type	Ataxia, White hair, Ocular albinism, Seizure, Hypertonia, Generalized hypopigmentation, Iris hypo...	ORPHA:2720
Charcot-Marie-Tooth Disease, Dominant Intermediate E	Axonal loss, Onion bulb formation	OMIM:614455
Parkinson Disease 14, Autosomal Recessive	Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,...	OMIM:612953
Parkinson Disease 23, Autosomal Recessive Early-Onset	Resting tremor, Parkinsonism, Neurofibrillary tangles, Rigidity, Abnormal pyramidal sign, Limb dy...	OMIM:616840
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins...	OMIM:614298
Spinocerebellar Ataxia 8	Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi...	OMIM:608768
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Dystonia, Jaundice, Respiratory insufficiency, P...	OMIM:607625
Neuropathy, Hereditary Sensory And Autonomic, Type Ia	Decreased number of large peripheral myelinated nerve fibers, Hand tremor, Tongue fasciculations,...	OMIM:162400
Atypical Rett Syndrome	Dystonia, Involuntary movements, Infantile spasms, Tremor, Gait ataxia, Pill-rolling tremor, Seiz...	ORPHA:3095
Late-Infantile/Juvenile Krabbe Disease	Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,...	ORPHA:206443
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Seizure, Dystonia, Limb hypert...	ORPHA:70594
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp	OMIM:618373
Mitochondrial Complex I Deficiency, Nuclear Type 21	Spasticity, Babinski sign, Ataxia, Leukodystrophy	OMIM:618242
Charcot-Marie-Tooth Disease Type 1B	Peripheral axonal neuropathy, Peripheral dysmyelination	ORPHA:101082
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Respiratory failure	ORPHA:75840
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ataxia, Myoclonus, Brain atrophy, Leukodystrophy, Spasticity	OMIM:618225
Marbach-Rustad Progeroid Syndrome	Intention tremor, CNS hypomyelination	OMIM:619322
Toriello-Lacassie-Droste Syndrome	Generalized hyperpigmentation, Aganglionic megacolon	ORPHA:3339
Pitt-Hopkins Syndrome	Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Hypopigmented skin patches, Gastroeso...	ORPHA:2896
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Optic atrophy, Apnea, Central hypoventilation	OMIM:618233
Spinocerebellar Ataxia 42	Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Dysph...	OMIM:616795
Combined Oxidative Phosphorylation Defect Type 23	Stridor, Paroxysmal dyspnea, Respiratory failure, Cyanosis	ORPHA:444013
Migraine, Familial Hemiplegic, 2	Cerebellar atrophy, Bilateral tonic-clonic seizure, Tremor, Focal motor seizure, Dysmetria, Gait ...	OMIM:602481
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure, Opisthotonus	OMIM:610678
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Porphyria Variegata	Ileus, Seizure, Constipation, Respiratory paralysis, Tetraparesis, Hypopigmentation of the skin, ...	ORPHA:79473
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Hereditary Bullous Dystrophy, Macular Type	Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy...	ORPHA:1867
Neurodegeneration With Brain Iron Accumulation 1	Eyelid apraxia, Dystonia, Hyperpigmentation of the skin, Ataxia, Parkinsonism, Tremor, Rigidity, ...	OMIM:234200
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Respiratory failure	OMIM:616867
Spinocerebellar Ataxia Type 27	Cerebellar atrophy, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Truncal ataxia, Sensory axonal...	ORPHA:98764
Glycosylphosphatidylinositol Biosynthesis Defect 25	Sparse hair, Coarse hair, Delayed CNS myelination	OMIM:619985
Spinocerebellar Ataxia 21	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Parkinsonism, Postural tremor, Limb ataxia, ...	OMIM:607454
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Cerebellar atrophy, Neurodegeneration	ORPHA:438134
Leukodystrophy, Hypomyelinating, 4	Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Leukodystrophy, Progressive ...	OMIM:612233
Xeroderma Pigmentosum, Complementation Group F	Ataxia, Tremor, Numerous pigmented freckles, Brain atrophy, Freckling	OMIM:278760
Leukodystrophy, Hypomyelinating, 3	Appendicular spasticity, Corpus callosum atrophy, Sudanophilic leukodystrophy, Abnormal pyramidal...	OMIM:260600
Muenke Syndrome	High, narrow palate, Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule	ORPHA:53271
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Anal atresia, Rectovaginal fistula	OMIM:236700
Localized Epidermolysis Bullosa Simplex	Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79400
Dystonia 13, Torsion, Autosomal Dominant	Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula...	OMIM:607671
Epidermal Nevus Syndrome	Atrophy of the spinal cord, Progressive spastic paraparesis, Babinski sign, Hypertonia, Hypopigme...	ORPHA:35125
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Immunodeficiency 54	Respiratory failure, Hyperpigmentation of the skin, Respiratory insufficiency	OMIM:609981
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cerebellar atrophy, Dystonia, Delayed myelination, Chorea, Cerebral atrophy, Pigmentary retinopat...	ORPHA:404454
Leukodystrophy, Childhood-Onset, Remitting	Leukodystrophy	OMIM:619864
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome	Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Gait ataxia	ORPHA:90103
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno...	ORPHA:137914
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Dystonia, Ataxia, Tremor, Abnormal pyramidal sign, Fine hair, Premature graying of hair, Gastroin...	OMIM:612199
Mitochondrial Complex I Deficiency, Nuclear Type 5	Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Dysphagia, Brain atrophy, Leukodystrophy	OMIM:618226
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation	OMIM:620326
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure, Facial palsy	OMIM:606612
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis	ORPHA:449285
Vici Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Seizure, Hypopigmentation of the skin, Cerebr...	ORPHA:1493
Dowling-Degos Disease	Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin...	ORPHA:79145
Dentatorubral Pallidoluysian Atrophy	Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Dysmetria, Gait ataxia, Choreoathet...	ORPHA:101
Lipodystrophy, Familial Partial, Type 6	Hypopigmentation of the skin	OMIM:615980
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Spinal dysraphism, Malabsorption	ORPHA:175
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO	ORPHA:747
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Generalized-onset seizure, Ataxia, Dystonia, Highly arched eyebrow, Tremor, Low anterior hairline...	OMIM:220111
Progressive Non-Fluent Aphasia	Parkinsonism, Neurofibrillary tangles, Temporal cortical atrophy, Astrocytosis, Frontotemporal ce...	ORPHA:100070
Hypermanganesemia With Dystonia 2	Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babinski sign, Scissor ...	OMIM:617013
Leukodystrophy, Progressive, Early Childhood-Onset	Appendicular spasticity, Cerebral atrophy, Leukodystrophy, Dystonia, Thick eyebrow	OMIM:617762
Dyskeratosis Congenita, Autosomal Recessive 3	Abnormality of skin pigmentation, Nail dystrophy, Oral leukoplakia, Squamous cell carcinoma of th...	OMIM:613988
Epidermodysplasia Verruciformis	Multiple cafe-au-lait spots, Hypopigmented skin patches	ORPHA:302
Hermansky-Pudlak Syndrome 11	Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair	OMIM:619172
Mohr-Tranebjaerg Syndrome	Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Babinski sign, Optic atrophy, Abnormal p...	ORPHA:52368
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Fryns Syndrome	Aganglionic megacolon, Intestinal malrotation, Esophageal atresia, Cleft palate, Stillbirth, Meck...	OMIM:229850
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Dpagt1-Cdg	Ataxia, Tremor, CNS hypomyelination, Hypertonia, Cerebral cortical atrophy, Global brain atrophy,...	ORPHA:86309
Childhood-Onset Spasticity With Hyperglycinemia	Ataxia, Babinski sign, Spastic diplegia, Spastic dysarthria, Hypertonia, Myoclonus, Leukodystroph...	ORPHA:401866
Parkinsonism-Dystonia 2, Infantile-Onset	Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Dystonia	OMIM:618049
Ataxia With Vitamin E Deficiency	Abnormality of retinal pigmentation, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal s...	ORPHA:96
Parkinson Disease, Late-Onset	Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia...	OMIM:168600
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Spina bifid...	OMIM:618291
Charcot-Marie-Tooth Disease Type 1F	Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas...	ORPHA:101085
Familial Acute Necrotizing Encephalopathy	Rigidity, Spastic tetraplegia, Hypertonia, Gliosis, Spasticity	ORPHA:88619
Bardet-Biedl Syndrome 1	Bone spicule pigmentation of the retina, Aganglionic megacolon, High, narrow palate, High palate,...	OMIM:209900
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Spinocerebellar Ataxia, Autosomal Recessive 21	Tremor, Limb ataxia, Gait ataxia, Spasticity, Frequent falls, Cerebellar vermis atrophy	OMIM:616719
Fanconi Anemia	Aganglionic megacolon, Aplasia/Hypoplasia of the uvula, Tracheoesophageal fistula, Hypopigmented ...	ORPHA:84
Infantile Krabbe Disease	Lower limb spasticity, Diffuse cerebral atrophy, Optic atrophy, Hypopigmented skin patches, Spast...	ORPHA:206436
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Aicardi-Goutieres Syndrome 4	Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Dystonia, Spasticity	OMIM:610333
Acute Radiation Syndrome	Diarrhea, Seizure, Vomiting, Hypopigmentation of the skin, Hyperpigmentation of the skin	ORPHA:454831
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia	ORPHA:330021
Myopathy With Extrapyramidal Signs	Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoat...	OMIM:615673
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti...	OMIM:300055
Thoracic Dysplasia-Hydrocephalus Syndrome	Communicating hydrocephalus, Respiratory failure	ORPHA:1861
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Hydrocephalus, Respiratory failure, Neonatal death, Palmopla...	OMIM:616482
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Ataxia, Cleft soft palate, Pyloric stenosis, CNS hypomyelination, Hypertonia, Breast aplasia, Gas...	ORPHA:268261
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Wheezing, Hydrocephalus, Bronchiectasis, Respira...	ORPHA:244
Toriello-Carey Syndrome	Anteriorly placed anus, Aganglionic megacolon, High palate, Cleft palate	ORPHA:3338
Hermansky-Pudlak Syndrome 6	Hypopigmentation of the skin, Ocular albinism, Albinism	OMIM:614075
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Cystathioninuria	Tremor, Seizure	ORPHA:212
Parkinson Disease 7, Autosomal Recessive Early-Onset	Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis...	OMIM:606324
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Aganglionic megacolon, Intestinal malrotation, Spina bifida, Hydroce...	ORPHA:567
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Cerebrotendinous Xanthomatosis	Cerebellar atrophy, Resting tremor, Dystonia, Ataxia, Parkinsonism, Paraparesis, Axonal degenerat...	ORPHA:909
Glutathionuria	Tremor, Dysdiadochokinesis, Constipation, Action tremor	OMIM:231950
Cockayne Syndrome A	Cerebellar atrophy, Dry hair, Ataxia, Abnormal peripheral myelination, Tremor, Retinal pigment ep...	OMIM:216400
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Combined Oxidative Phosphorylation Deficiency 13	Choreoathetosis, Leukodystrophy, Dystonia	OMIM:614932
Curry-Jones Syndrome	Intestinal malrotation, Optic disc coloboma, Hypopigmented skin patches, Generalized hirsutism	ORPHA:1553
Tricuspid Atresia	Cyanosis	ORPHA:1209
Squalene Synthase Deficiency	Optic nerve hypoplasia, Seizure, Constipation, Abnormality of hair pigmentation	OMIM:618156
Parkinson Disease 17	Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia	OMIM:614203
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Cockayne Syndrome B	Dry hair, Ataxia, Abnormal peripheral myelination, Abnormal hair morphology, Tremor, Optic atroph...	OMIM:133540
Combined Oxidative Phosphorylation Defect Type 7	Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ora...	ORPHA:254930
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Abnormal CNS myelination, Progressive spastic paraplegia	ORPHA:521390
Idiopathic Camptocormia	Cerebral atrophy, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis	ORPHA:1320
Hermansky-Pudlak Syndrome	Gastrointestinal hemorrhage, Hypopigmentation of hair, Partial albinism, Malabsorption, Ocular al...	ORPHA:79430
Early-Onset Autosomal Dominant Alzheimer Disease	Ataxia, Parkinsonism, Neurofibrillary tangles, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia...	ORPHA:1020
Hartnup Disease	Irregular hyperpigmentation, Glossitis, Hypopigmented skin patches, Malabsorption	ORPHA:2116
Spinocerebellar Ataxia, Autosomal Recessive 30	Cerebellar atrophy, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Titubation	OMIM:619405
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Ataxia, Pigmentary retinopathy, Abnormal CNS myelination, Freckling	OMIM:610651
Congenital Disorder Of Deglycosylation 1	Delayed CNS myelination, Involuntary movements, Oral-pharyngeal dysphagia, Chorea, Delayed myelin...	OMIM:615273
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Pigmentary...	OMIM:220110
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Lower limb spasticity, Delayed myelination, Abnormality of skin pigmentation, Upper limb spastici...	OMIM:300868
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle...	OMIM:606071
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Aqueductal stenosis, Velopharyngeal insufficiency, Hydrocephalus, Cleft pa...	OMIM:154400
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough	ORPHA:99931
Spontaneous Periodic Hypothermia	Tremor, Seizure, Diarrhea, Ataxia	ORPHA:29822
Leukodystrophy, Hypomyelinating, 13	Lower limb spasticity, Delayed CNS myelination, Exaggerated startle response, Ataxia, Clonus, Hyp...	OMIM:616881
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Neuropathy, Hereditary Sensory And Autonomic, Type Iia	Decreased number of peripheral myelinated nerve fibers, Paronychia, Gastroesophageal reflux	OMIM:201300
Waardenburg Syndrome, Type 1	White eyelashes, Partial albinism, White eyebrow, Synophrys, Blue irides, Premature graying of ha...	OMIM:193500
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Buerger Disease	Acrocyanosis	ORPHA:36258
De Sanctis-Cacchione Syndrome	Ataxia, Hypermelanotic macule, Axonal degeneration, Scissor gait, Babinski sign, Cerebral atrophy...	OMIM:278800
Multiple Endocrine Neoplasia Type 2	Neoplasm of the liver, Abnormal tongue morphology, Aganglionic megacolon, Ganglioneuromatosis	ORPHA:653
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Pyloric stenosis, Optic atrophy, Cleft palate, Gastroesophageal reflux, Ho...	ORPHA:818
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Cyanosis, Apnea	OMIM:261680
Wolfram Syndrome 1	Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Pigmentary retinopathy, Seizure, Dysphagia	OMIM:222300
Acro-Renal-Ocular Syndrome	Optic disc coloboma, Aganglionic megacolon	ORPHA:959
Dystonia 2, Torsion, Autosomal Recessive	Torticollis, Tremor, Torsion dystonia, Blepharospasm, Dysphagia	OMIM:224500
Amyloidosis, Hereditary, Transthyretin-Related	Peripheral axonal neuropathy, Ataxia, Tremor, Diarrhea, Abnormal pyramidal sign, Paraplegia, Limb...	OMIM:105210
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Cerebellar atrophy, Ataxia, Postural tremor, Babinski sign, Lower limb hypertonia, Gliosis, Myocl...	OMIM:301072
Congenital Myasthenic Syndrome	Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle...	ORPHA:98914
Leukodystrophy, Hypomyelinating, 24	Cerebral atrophy, Tongue fasciculations, Leukodystrophy	OMIM:619851
Chédiak-Higashi Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Parkin...	ORPHA:167
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Seizure, Delayed CNS myelination, Neurodegeneration	OMIM:620210
Tetrasomy 5P	Respiratory distress, Cyanosis, Hydrocephalus, Depigmentation/hyperpigmentation of skin, Pulmonar...	ORPHA:3309
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dystonia, Optic neuropathy, Tremor, Dyspnea, Optic atrophy, Respiratory insuffi...	OMIM:610505
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Alg1-Cdg	Respiratory failure	ORPHA:79327
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Tremor, Jaundice, Hypopnea, Respiratory failure, Dystonia, Neonatal deat...	OMIM:617248
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Cerebellar atrophy, Ataxia, Seizure, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axon...	OMIM:612780
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	High palate, Brittle hair, Hypopigmentation of the skin	OMIM:236200
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri...	ORPHA:2038
Spinocerebellar Ataxia Type 21	Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor...	ORPHA:98773
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure	ORPHA:1194
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Mitochondrial Complex Ii Deficiency, Nuclear Type 4	Spasticity, Ataxia, Leukodystrophy, Dystonia	OMIM:619224
Multiple Sclerosis, Susceptibility To	CNS demyelination, Spasticity, Incoordination	OMIM:126200
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Miscarriage, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Schinzel-Giedion Syndrome	Aganglionic megacolon, Anteriorly placed anus, Macroglossia, Neural tube defect, High palate, Dys...	ORPHA:798
Early Infantile Epileptic Encephalopathy	Cerebellar atrophy, Diffuse cerebral atrophy, Bilateral tonic-clonic seizure, Infantile spasms, G...	ORPHA:1934
Hermansky-Pudlak Syndrome 8	Optic disc pallor, Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transilluminati...	OMIM:614077
Down Syndrome	Aganglionic megacolon, Protruding tongue, Duodenal stenosis, Macroglossia, Anal atresia	OMIM:190685
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Spastic tetraplegia, CNS hypomyelination	OMIM:619306
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Cerebellar atrophy, Chronic axonal neuropathy, Peripheral axonal neuropathy, Dystonia, Tremor, Ch...	OMIM:606002
Crouzon Syndrome	Optic atrophy, Hypopigmented skin patches, Narrow palate, Melanocytic nevus	ORPHA:207
Sézary Syndrome	Tremor, Nail dystrophy, Alopecia, Irregular hyperpigmentation	ORPHA:3162
Cockayne Syndrome	Cerebellar atrophy, Abnormality of retinal pigmentation, Dry hair, Ataxia, Cerebral dysmyelinatio...	ORPHA:191
Hermansky-Pudlak Syndrome 4	Ocular albinism, Albinism	OMIM:614073
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Abnormal posturing, Tachypnea	OMIM:614857
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus	ORPHA:335
Autosomal Recessive Spastic Paraplegia Type 55	Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Poor fine motor coordinati...	ORPHA:320375
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Apnea, Respiratory failure	OMIM:617301
Atypical Progressive Supranuclear Palsy Syndrome	Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami...	ORPHA:99750
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Cerebellar atrophy, Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ata...	OMIM:618056
Meconium Ileus	Microcolon, Meconium ileus	OMIM:614665
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Cerebral Visual Impairment	Optic disc pallor, Cerebral palsy, Optic nerve hypoplasia, Optic atrophy, Clumsiness, Central ner...	ORPHA:447788
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Intestinal malrotation, Pyloric stenosis, Gastrointestinal dysmotility, Hy...	OMIM:270400
Mitochondrial Neurogastrointestinal Encephalomyopathy	Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Diarr...	ORPHA:298
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Dystonia, Acrocyanosis, Intention tremor	OMIM:614407
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Curly hair, Generalized-onset seizure, Focal-onset seizure, Hypopigmented skin patches, Seizure, ...	ORPHA:457485
Peripartum Cardiomyopathy	Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial...	ORPHA:563
Intellectual Developmental Disorder, Autosomal Recessive 78	Febrile seizure (within the age range of 3 months to 6 years), Hypopigmentation of the skin, Opti...	OMIM:620237
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Macroglossia, High palate, CNS hypomyelination	OMIM:614501
Congenital Multicore Myopathy With External Ophthalmoplegia	Facial palsy, Pneumonia, Abnormal respiratory system physiology, Facial diplegia, Respiratory fai...	ORPHA:98905
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Xeroderma Pigmentosum, Complementation Group C	Freckling, Hypopigmentation of the skin	OMIM:278720
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Fair hair, Blue irides	OMIM:614613
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Cardiorespiratory arrest, Restrictive ventilatory defect, Respiratory failure, Gliosis	ORPHA:26791
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Niemann-Pick Disease, Type C1	Ataxia, Neurofibrillary tangles, Dysphagia, Gait ataxia, Dystonia, Cataplexy, Spasticity, Neurona...	OMIM:257220
Den Hoed-De Boer-Voisin Syndrome	Lower limb spasticity, Thick eyebrow, Ataxia, Generalized clonic seizure, Tremor, Focal-onset sei...	OMIM:619229
Porphyria Cutanea Tarda	Hyperpigmentation of the skin, Increased fecal porphyrin, Hepatocellular carcinoma, Hypopigmentat...	ORPHA:101330
Spastic Paraplegia 9B, Autosomal Recessive	Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetraplegia, Pseudobulbar par...	OMIM:616586
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)	Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast...	OMIM:203700
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Ataxia, Optic atrophy, Spastic tetraplegia, Cerebral atrophy, Seizure, Small ...	OMIM:251300
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ...	OMIM:300860
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ...	ORPHA:79396
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Ataxia, Spastic tetraparesis, Hoffmann sign, Limb myoclonus, Dysmetria, Dy...	ORPHA:139396
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Wiedemann-Rautenstrauch Syndrome	Sparse scalp hair, Ataxia, Submucous cleft soft palate, Action tremor, Tremor, Synophrys, CNS hyp...	ORPHA:3455
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure, Optic atrophy	ORPHA:2707
Hermansky-Pudlak Syndrome 10	Delayed CNS myelination, Albinism, Ocular albinism, Cerebral atrophy, Dystonia	OMIM:617050
Brain Dopamine-Serotonin Vesicular Transport Disease	Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog...	ORPHA:352649
Schimmelpenning-Feuerstein-Mims Syndrome	Seizure, Alopecia, Hypopigmentation of the skin	OMIM:163200
Kleefstra Syndrome Due To A Point Mutation	Gastroesophageal reflux, Gliosis, Anal atresia	ORPHA:261652
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Bruising susceptibility	ORPHA:3226
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Respiratory failure	OMIM:620327
Adult-Onset Autosomal Dominant Leukodystrophy	Clonus, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia, Intention tremor, At...	ORPHA:99027
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Pyruvate Carboxylase Deficiency	Athetosis, Clonus, Leukodystrophy	OMIM:266150
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Neuromuscular Oculoauditory Syndrome	Bilateral tonic-clonic seizure, Infantile spasms, Retinal pigment epithelial mottling, Peripheral...	OMIM:618733
Hermansky-Pudlak Syndrome 7	Ocular albinism, Albinism	OMIM:614076
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells	OMIM:271225
Charcot-Marie-Tooth Disease Type 4C	Decreased number of peripheral myelinated nerve fibers, Cerebellar atrophy, Frequent falls, Optic...	ORPHA:99949
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Congenital pyloric atresia	OMIM:619817
Meckel Syndrome 14	Occipital encephalocele, Cyanosis, Pneumothorax, Cardiorespiratory arrest, Holoprosencephaly	OMIM:619879
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Ataxia, Rigidity, Focal-onset seizure, Optic atrophy, Spastic tetraplegia, Seizure, Long eyelashe...	OMIM:618476
Severe Oculo-Renal-Cerebellar Syndrome	Abnormality of retinal pigmentation, Optic atrophy, Hypopigmented skin patches, Spastic diplegia,...	ORPHA:2715
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Choreoacanthocytosis	Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Laryngeal dystonia, Self-mutilation of tongue...	ORPHA:2388
Porphyria, Congenital Erythropoietic	Absent eyebrow, Alopecia, Loss of eyelashes, Increased fecal coproporphyrin 1, Hypopigmentation o...	OMIM:263700
Alternating Hemiplegia Of Childhood	Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyramidal sign, Choreoathetosis, Vomiting, At...	ORPHA:2131
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Acrofrontofacionasal Dysostosis	Brushfield spots, Hypopigmented skin patches, Cleft palate, High palate, Anonychia, Aplasia/Hypop...	ORPHA:1784
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies	Abnormal CNS myelination	OMIM:611555
Intellectual Disability And Myopathy Syndrome	Cafe-au-lait spot, Spotty hypopigmentation	OMIM:619719
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Alopecia, Thin fingernail, Aganglionic megacolon, Abnormal eyelash morphology, Ab...	ORPHA:2273
Epilepsy, Familial Adult Myoclonic, 2	Bilateral tonic-clonic seizure, Ataxia, Tremor, Blepharospasm, Myoclonus	OMIM:607876
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration	Ataxia, Clonus, Oral-pharyngeal dysphagia, Poor coordination, Optic atrophy, Spastic tetraplegia,...	OMIM:616878
Schilder Disease	Ankle clonus, CNS demyelination, Ataxia	ORPHA:59298
Severe Congenital Nemaline Myopathy	Facial diplegia, Respiratory failure, Facial palsy	ORPHA:171430
Marchiafava-Bignami Disease	Ataxia, Rigidity, Abnormal pyramidal sign, Gait ataxia, Hemiparesis, Tetraparesis, Apraxia, CNS d...	ORPHA:221074
Sporadic Infantile Bilateral Striatal Necrosis	Resting tremor, Abnormal posturing, Dystonia, Titubation	ORPHA:225147
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Cerebellar atrophy, Delayed CNS myelination, Brittle hair, Ataxia, Cerebral atrophy, Gliosis, Spa...	OMIM:124000
Gaba-Transaminase Deficiency	Leukodystrophy	OMIM:613163
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Abnormality of retinal pigmentation, Melanocytic nevus, Multiple cafe-au-lait spots, Generalized ...	ORPHA:1969
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Infantile spasms...	ORPHA:25
Gabriele-De Vries Syndrome	Oral-pharyngeal dysphagia, Sparse eyebrow, Tremor, Delayed myelination, Esophageal atresia, Front...	ORPHA:506358
Canavan Disease	CNS demyelination, Abnormal pyramidal sign, Brain atrophy, Opisthotonus	OMIM:271900
Niemann-Pick Disease Type C	Generalized-onset seizure, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Leuk...	ORPHA:646
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebellar atrophy, Limb dystonia, Multifocal seizures, Ataxia, Tremor, Delayed myelination, Spas...	ORPHA:572798
Coenzyme Q10 Deficiency, Primary, 1	Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Seizure, Status epilepticus, Myoclo...	OMIM:607426
3-Methylglutaconic Aciduria Type 7	Choreoathetosis, Respiratory failure, Pneumothorax, Opisthotonus	ORPHA:445038
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory...	OMIM:615636
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Hydrocephalus, Optic atrophy, Respiratory failure, Stillbirth	OMIM:259720
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Facial palsy, Respiratory insufficiency, Astrocytosis, Pulmonary arterial hypert...	ORPHA:258
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome	Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination	ORPHA:168563
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Gastroparesis, Seizure, Occipital cortical atrophy, Parietal cortical a...	ORPHA:98754
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis, White hair	ORPHA:896
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Choreoathetosis...	ORPHA:209905
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros...	ORPHA:95699
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Ataxia-Telangiectasia	Ataxia, Abnormal hair morphology, Tremor, Chronic diarrhea, Slurred speech, Choreoathetosis, Seiz...	OMIM:208900
X-Linked Agammaglobulinemia	Glossoptosis, Alopecia, Hypopigmented skin patches, Malabsorption	ORPHA:47
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Cerebellar atrophy, Delayed CNS myelination, Ataxia, Cerebral atrophy, Dysphagia, Choreoathetosis...	OMIM:615471
Syndromic Diarrhea	Hypopigmentation of hair, Villous atrophy, Gastritis, Brittle hair, Woolly hair, Colitis, Uncomba...	ORPHA:84064
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa...	OMIM:608836
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Gastroparesis, Seizure, Occipital cortical atrophy, Parietal cortical a...	ORPHA:98793
Sandestig-Stefanova Syndrome	Respiratory failure	OMIM:618804
Peroxisome Biogenesis Disorder 6B	Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia, Leukodystrophy, Intention tremor	OMIM:614871
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Gastroparesis, Seizure, Occipital cortical atrophy, Parietal cortical a...	ORPHA:177904
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Pn...	ORPHA:79138
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis, Opisthotonus	ORPHA:3304
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Gastroparesis, Seizure, Occipital cortical atrophy, Parietal cortical a...	ORPHA:177901
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Alopecia, Subungual hyperkeratosis, Aganglionic megacolon, Sparse scalp hair, Abs...	OMIM:308205
Myopathy, Mitochondrial, And Ataxia	Ataxia, Thick hair, Tremor, Dysmetria, Limb ataxia, Pigmentary retinopathy, Dysdiadochokinesis, H...	OMIM:617675
D-Bifunctional Protein Deficiency	Cerebellar atrophy, Cerebral dysmyelination, Corpus callosum atrophy, High palate, Gliosis	OMIM:261515
Prader-Willi Syndrome	Hypopigmentation of hair, Poor gross motor coordination, Poor fine motor coordination, Seizure, F...	OMIM:176270
Oculocerebrocutaneous Syndrome	Alopecia, Abnormal fingernail morphology, Hemiplegia/hemiparesis, Hypopigmented skin patches, Sei...	ORPHA:1647
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Congenitally Uncorrected Transposition Of The Great Arteries	Hypoxemia, Cyanosis, Tachypnea	ORPHA:860
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency	Cerebellar atrophy, Dystonia, Choreoathetosis, Progressive spastic quadriplegia, Leukodystrophy, ...	ORPHA:431361
Incontinentia Pigmenti	Alopecia, Abnormal fingernail morphology, Supernumerary nipple, Abnormal hair morphology, Hemiple...	ORPHA:464
Bohring-Opitz Syndrome	Thick hair, Supernumerary nipple, Delayed peripheral myelination, Low anterior hairline, Seizure,...	OMIM:605039
Papillon-Lefèvre Syndrome	Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy...	ORPHA:678
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail	ORPHA:1295
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Classic Progressive Supranuclear Palsy Syndrome	Axial dystonia, Parkinsonism, Tremor, Neuromuscular dysphagia, Abnormal pyramidal sign, Blepharos...	ORPHA:240071
Sim1-Related Prader-Willi-Like Syndrome	Seizure, Hypopigmentation of hair, Hypopigmentation of the skin, Xerostomia	ORPHA:398079
Mitochondrial Trifunctional Protein Deficiency 1	Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency	OMIM:609015
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair, Hypoglycemic seizures	OMIM:609734
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Asthma, Hypopigmented skin patches, Respiratory insufficiency, Urtica...	ORPHA:183
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Sjogren-Larsson Syndrome	CNS demyelination, Spasticity, Spastic paraparesis	OMIM:270200
Congenital Bile Acid Synthesis Defect Type 4	Ataxia, Tremor, Hematochezia, Pigmentary retinopathy, Seizure	ORPHA:79095
Harrod Syndrome	Seizure, Cerebral cortical atrophy, Hypopigmented skin patches	ORPHA:2115
Bloom Syndrome	Sparse eyelashes, Esophageal neoplasm, Paronychia, Patchy alopecia, Gastroesophageal reflux, Recu...	ORPHA:125
Dyskeratosis Congenita	Abnormal eyebrow morphology, Alopecia, Esophageal stenosis, Abnormal fingernail morphology, Hyper...	ORPHA:1775
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Optic disc pallor, Cyanosis, Apnea, Optic neuropathy, Respiratory insufficiency...	OMIM:252010
Hypohidrotic Ectodermal Dysplasia	Abnormal hair quantity, Slow-growing hair, Xerostomia, Aplasia/Hypoplasia of the eyebrow, Breast ...	ORPHA:238468
Aceruloplasminemia	Abnormality of retinal pigmentation, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tr...	ORPHA:48818
12Q14 Microdeletion Syndrome	Hyperpigmentation of the skin, Intestinal malrotation, Tremor, Synophrys, Thick eyebrow	ORPHA:94063
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Localized Scleroderma	Abnormal skin adnexa morphology, Hypopigmented skin patches, Seizure, Patchy alopecia, Focal impa...	ORPHA:90289
Asparagine Synthetase Deficiency	Caudate atrophy, Exaggerated startle response, Optic nerve hypoplasia, Clonus, Tremor, Clonic sei...	OMIM:615574
Hermansky-Pudlak Syndrome 5	Iris transillumination defect, Ocular albinism, Albinism	OMIM:614074
Pemphigus Erythematosus	Hypopigmented skin patches	ORPHA:79480
Trichohepatoenteric Syndrome 1	Curly hair, Villous atrophy, Brittle hair, Woolly hair, Fine hair, Sparse hair, Generalized hypop...	OMIM:222470
Mosaic Trisomy 8	High palate, Hypopigmentation of the skin, Hypopigmented skin patches, Cleft palate	ORPHA:96061
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi...	ORPHA:420741
Ruvalcaba Syndrome	Seizure, Hypopigmented skin patches, Generalized hirsutism	ORPHA:3121
Aicardi-Goutieres Syndrome 5	Spasticity, Leukodystrophy	OMIM:612952
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Abnormal posturing, Giant somatosensory evoked potentials	ORPHA:268943
Magel2-Related Prader-Willi-Like Syndrome	Hypopigmentation of hair, Xerostomia, Seizure, Chronic constipation, Gastroesophageal reflux, Hyp...	ORPHA:398069
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Albinism, Ocular albinism, Gastroesophageal reflux, Generalized h...	OMIM:608233
Rothmund-Thomson Syndrome	Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail...	ORPHA:2909
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Generalized hypopigmentation, Iris transillumination defect	OMIM:617306
Tyrosinemia Type 2	Tremor, Seizure, Ataxia, Abnormality of the nail	ORPHA:28378
Parkinson Disease 20, Early-Onset	Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Dy...	OMIM:615530
Mitochondrial Complex I Deficiency, Nuclear Type 2	Ankle clonus, Gliosis, Dystonia	OMIM:618222
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Hydrocephalus	OMIM:616538
Metachromatic Leukodystrophy, Adult Form	Chorea, Babinski sign, Neoplasm of the gallbladder, Clumsiness, Progressive spastic quadriplegia,...	ORPHA:309271
Aicardi-Goutieres Syndrome 1	Dystonia, Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Mucopolysaccharidosis, Type Ii	Abnormality of retinal pigmentation, Papilledema, Diarrhea, Seizure, Neurodegeneration, Hypertric...	OMIM:309900
Hypermanganesemia With Dystonia 1	Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality...	OMIM:613280
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Cerebral atrophy, Myoclonus, Leukodystrophy	OMIM:614462
Metachromatic Leukodystrophy, Juvenile Form	Babinski sign, Clumsiness, Progressive gait ataxia, Decerebrate rigidity, Leukodystrophy, Dystoni...	ORPHA:309263
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Optic atrophy, Respiratory insufficiency	OMIM:618329
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Seizure, Abnormal myelination	OMIM:617333
Insensitivity To Pain, Congenital, With Anhidrosis	Sparse scalp hair, Decreased number of small peripheral myelinated nerve fibers, Nail dystrophy, ...	OMIM:256800
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Seizure, Stellate iris, Hypopigmentation of the skin, Cerebral cortical...	ORPHA:177907
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Alexander Disease	Ataxia, Facial palsy, Bowel incontinence, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetrap...	ORPHA:58
Prader-Willi Syndrome	Hypopigmentation of hair, Gastroparesis, Xerostomia, Seizure, Vomiting, Hypopigmentation of the skin	ORPHA:739
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Hyperlysinemia	Neck hypertonia, Poor motor coordination, Simple febrile seizure, Spastic tetraparesis, Tremor, S...	ORPHA:2203
Rothmund-Thomson Syndrome Type 1	Alopecia totalis, Functional abnormality of the gastrointestinal tract, Sparse or absent eyelashe...	ORPHA:221008
Rothmund-Thomson Syndrome Type 2	Alopecia totalis, Functional abnormality of the gastrointestinal tract, Cleft palate, Sparse or a...	ORPHA:221016
Bloom Syndrome	Cafe-au-lait spot, Hypopigmentation of the skin, Spotty hypopigmentation, Hypertrichosis	OMIM:210900
Poems Syndrome	Papilledema, Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pu...	ORPHA:2905
Mitochondrial Trifunctional Protein Deficiency	Pigmentary retinopathy, Respiratory failure, Respiratory insufficiency	ORPHA:746
Vici Syndrome	Hypopigmentation of hair, Albinism, Ocular albinism, Cleft palate, High palate, Dysphagia, Hypopi...	OMIM:242840
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Cleft palate, Gait ataxia, Gastroesophageal reflux, Cerebral hypomyelination, Sparse lateral eyebrow	ORPHA:513456
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Ataxia, Ocular albinism, Abnormal pyramidal sign, Spastic tetraplegia, ...	ORPHA:2719
Pyruvate Dehydrogenase E2 Deficiency	Speech apraxia, Paroxysmal dystonia, Babinski sign, Hypertonia, Neurodegeneration, Arm dystonia	ORPHA:79244
Tremor, Nystagmus, And Duodenal Ulcer	Tremor, Kinetic tremor, Duodenal ulcer	OMIM:190310
Double Outlet Right Ventricle	Cyanosis, Tachypnea	ORPHA:3426
Mednik Syndrome	Neonatal death, Volvulus, Jejunal atresia, Microcolon	OMIM:609313
Multiple Acyl-Coa Dehydrogenase Deficiency	Gliosis	OMIM:231680
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores...	ORPHA:3342
Dermatoleukodystrophy	Leukodystrophy	OMIM:221790
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Xeroderma Pigmentosum	Alopecia, Ataxia, Hypermelanotic macule, Optic atrophy, Hypopigmented skin patches, Melanocytic n...	ORPHA:910
Sandifer Syndrome	Torticollis, Abnormal posturing	ORPHA:71272
Ethylene Glycol Poisoning	Cyanosis, Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Metachromatic Leukodystrophy, Late Infantile Form	Babinski sign, Clumsiness, Gait ataxia, Progressive gait ataxia, Decerebrate rigidity, Leukodystr...	ORPHA:309256
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse scalp hair, Anal stenosis, Absence of Stensen duct, Sparse eyelashes, Sparse axillary hair...	OMIM:604292
Frontal Encephalocele	Leukodystrophy	ORPHA:1931
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Brittle Cornea Syndrome 1	Red hair	OMIM:229200
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure, Abnormal motor nerve con...	ORPHA:2912
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Hepatoerythropoietic Porphyria	Scarring alopecia of scalp, Loss of eyelashes, Increased fecal porphyrin, Facial hypertrichosis, ...	ORPHA:95159
Histiocytoid Cardiomyopathy	Cyanosis, Hydrocephalus, Tachypnea, Optic atrophy, Cough	ORPHA:137675
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Diarrhea, Vomiting, Mixed hypo- and hyperpigmentation of the skin	ORPHA:79456
Alzheimer Disease 4	Neurofibrillary tangles	OMIM:606889
Gapo Syndrome	Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Optic atrophy, Hypopigmented skin patches	ORPHA:2067
Orofaciodigital Syndrome Xiv	Hamartoma of tongue, Aplasia of the epiglottis, CNS hypomyelination, Anteriorly placed anus, Lobu...	OMIM:615948
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Hydrocephalus, Pleural effusion	OMIM:261740
Degcags Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Jejunal atresia, Protruding tongue, Oral-p...	OMIM:619488
Parkinson Disease 21	Tremor, Rigidity, Parkinsonism, Bradykinesia	OMIM:616361
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse scalp hair, Absence of Stensen duct, Sparse eyelashes, Sparse axillary hair, Sparse eyebro...	OMIM:129900
Alg8-Cdg	Abnormality of the gastrointestinal tract, Ataxia, Macroglossia, Leukodystrophy, Cerebral cortica...	ORPHA:79325
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Neonatal death, Microcolon	OMIM:619362
Mowat-Wilson Syndrome	Pyloric stenosis, Submucous cleft hard palate, Aganglionic megacolon, Cleft palate	OMIM:235730
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Patent urachus, Death in childhood	OMIM:618252
Rere-Related Neurodevelopmental Syndrome	CNS demyelination, Gastroesophageal reflux, Broad eyebrow, Dysphagia	ORPHA:494344
Immunodeficiency 23	Ataxia, Esophageal stricture, Abnormal CNS myelination, High palate, Myoclonus, Cortical myoclonus	OMIM:615816
Lethal Acantholytic Erosive Disorder	Respiratory failure, Fragile skin	ORPHA:158687
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Umbilical hernia, Respiratory failure, Large placenta	ORPHA:254528
Multiple System Atrophy 1, Susceptibility To	Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration	OMIM:146500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Intestinal malrotation	OMIM:619431
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Cerebellar atrophy, Abnormal upper motor neuron morphology	OMIM:215470
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Limb ataxia, Leukodystrophy, Truncal ataxia	OMIM:619051
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Autosomal Dominant Spastic Paraplegia Type 9A	Corpus callosum atrophy, Tremor, Babinski sign, Abnormal pyramidal sign, Spastic dysarthria, Seiz...	ORPHA:447753
Koolen-De Vries Syndrome	Hypopigmentation of hair, Abnormality of hair texture, High, narrow palate, Pyloric stenosis, Nar...	ORPHA:96169
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Dystonia, Tachypnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:618278
Charcot-Marie-Tooth Disease Type 4B2	Tremor, Optic atrophy, Vocal cord paralysis, Poor fine motor coordination, Myelin outfoldings	ORPHA:99956
Nijmegen Breakage Syndrome	Anal stenosis, Glioma, Retinal pigment epithelial mottling, Progressive vitiligo, Cleft palate, N...	OMIM:251260
Peroxisome Biogenesis Disorder 12A (Zellweger)	CNS demyelination, Abnormality of the hairline, Cerebral atrophy	OMIM:614886
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Hurler Syndrome	Macroglossia, Abnormal CNS myelination, Neurodegeneration, Hirsutism	OMIM:607014
Rabson-Mendenhall Syndrome	Thick hair, Onychauxis, Low anterior hairline, Furrowed tongue, Premature graying of hair, Macrog...	ORPHA:769
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Respiratory failure	ORPHA:679
Cerebral Amyloid Angiopathy, Itm2B-Related, 2	Neurofibrillary tangles, Spasticity, Ataxia, Intention tremor	OMIM:117300
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Tremor, Jaundice, Respiratory failure	ORPHA:533
Koolen-De Vries Syndrome Due To A Point Mutation	Speech apraxia, Alopecia, Generalized-onset seizure, Focal hemiclonic seizure, Focal-onset seizur...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Speech apraxia, Alopecia, Generalized-onset seizure, Focal hemiclonic seizure, Focal-onset seizur...	ORPHA:363958
Esophageal Atresia	Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res...	ORPHA:1199
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Sotos Syndrome	Aganglionic megacolon, Sparse anterior scalp hair, Gastroesophageal reflux, Small nail, Hypopigme...	ORPHA:821
Isolated Sedoheptulokinase Deficiency	Abnormal CNS myelination, Steatorrhea, Subcortical cerebral atrophy	ORPHA:440713
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Telangiectasia of the sk...	OMIM:187300
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Gastroesophageal reflux, Gliosis, Dysphagia, High anterior hairline, Ankylog...	OMIM:615873
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Ataxia, Diarrhea, Seizure, Vomiting, Dyst...	OMIM:256810
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Alopecia, Barrett...	ORPHA:90291
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Incoordination, Decreased number of large peripheral myelinated nerve fibers, Diarrhea, Gastroeso...	OMIM:223900
Eec Syndrome	Slow-growing hair, Sparse eyebrow, Xerostomia, Cleft palate, Nail pits, Fine hair, Coarse hair, N...	ORPHA:1896
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Multifocal seizures, Synophrys, Seizure, Chronic constipation, Hypopigmentation of the skin	OMIM:301066
Hereditary Sensory And Autonomic Neuropathy Type 5	Decreased number of small peripheral myelinated nerve fibers	ORPHA:64752
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Delayed CNS myelination, Malabsorption, Tremor, Babinski sign, Hypertonia, Brain atrophy, Spasticity	OMIM:616539
Focal Dermal Hypoplasia	Ridged nail, Linear hyperpigmentation, Brittle hair, Intestinal malrotation, Supernumerary nipple...	OMIM:305600
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Respiratory insufficiency due to muscle weakness, Hypoxemia, Respiratory failure, As...	ORPHA:2020
Kindler Syndrome	Ridged nail, Anal stenosis, Esophageal stenosis, Spotty hypopigmentation, Dysphagia, Spotty hyper...	OMIM:173650
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Delayed peripheral myelination, Synophrys, Thin eyebrow, Small nail, Cafe-au-lait spot	ORPHA:364577
Papillorenal Syndrome	Gliosis	OMIM:120330
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Decreased number of peripheral myelinated nerve fibers, Chronic constipation	ORPHA:477817
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Dyspnea, Nonproductive cough, Recurrent pneumonia, Bronchiectasis, Hypocapni...	ORPHA:980
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Hypopigmented skin patches, Fine hair, Seizure, Multiple cafe-au-lait spots, Aplasia/Hypoplasia o...	ORPHA:2637
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Mucolipidosis Ii Alpha/Beta	Brittle hair, Sparse eyebrow, Macroglossia, Sparse hair, Hypopigmentation of the skin	OMIM:252500
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior...	ORPHA:233
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Tarp Syndrome	Optic atrophy, Cyanosis, Apnea	ORPHA:2886
Biliary, Renal, Neurologic, And Skeletal Syndrome	Esophageal varix, CNS hypomyelination, Frontotemporal cerebral atrophy, Gastroesophageal reflux, ...	OMIM:619534
Hydrolethalus Syndrome 1	Stillbirth, Anencephaly, Adrenal gland dysgenesis, Severe hydrocephalus	OMIM:236680
Mowat-Wilson Syndrome	Aganglionic megacolon, Periventricular heterotopia, Cleft hard palate, Pyloric stenosis, Gastroin...	ORPHA:2152
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Abnormal CNS myelination, High palate	OMIM:619053
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Secondary Syringomyelia	Paraplegia, Progressive cerebellar ataxia, Pseudobulbar paralysis, CNS demyelination, Facial para...	ORPHA:99857
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Abnormality of retinal pigmentation, Dyspnea, Hydrocephalus, Erythema, Hypo...	ORPHA:2556
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Periventricular heterotopia, Cleft hard palate, Pyloric stenosis, Cleft pa...	ORPHA:261537
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Abnormality of the gastrointestinal tract, Microcolon, Intestinal malrotation, Hypoperistalsis	ORPHA:2241
Congenital Erythropoietic Porphyria	Increased stool urobilinogen concentration, Scarring alopecia of scalp, Loss of eyelashes, Increa...	ORPHA:79277
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Hereditary Acrokeratotic Poikiloderma	Abnormality of the gastrointestinal tract, Xerostomia, Hypopigmented skin patches, Dystrophic fin...	ORPHA:2907
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Periventricular heterotopia, Cleft hard palate, Pyloric stenosis, Optic at...	ORPHA:261552
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Neurofibromatosis Type 1	Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Ataxi...	ORPHA:636
Microphthalmia, Syndromic 1	Aganglionic megacolon, High, narrow palate, Rectal prolapse, Optic disc coloboma, Pyloric stenosi...	OMIM:309800
Short Stature With Microcephaly And Distinctive Facies	Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair, Spotty hypopigmentation	OMIM:615789
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis	OMIM:617478
Menkes Disease	Gastrointestinal hemorrhage, Hypopigmentation of hair, Chorea, Seizure, Hypertonia, Sparse hair, ...	ORPHA:565
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Optic nerve hypoplasia, Cleft soft palate, Intestinal malrotation, Optic atrophy, Gener...	OMIM:619321
Brittle Cornea Syndrome	Abnormality of hair pigmentation, Cleft palate	ORPHA:90354
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Cystinosis, Nephropathic	Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Cerebra...	OMIM:219800
Costello Syndrome	Hydrocephalus, Pneumothorax, Respiratory insufficiency, Respiratory failure, Vestibular schwannom...	OMIM:218040
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Cyanosis, Aqueductal stenosis, Hydrocephalus, Myelomeningocele	OMIM:306955
Nijmegen Breakage Syndrome	Freckling, Respiratory failure, Cutaneous photosensitivity, Recurrent pneumonia	ORPHA:647
Tuberous Sclerosis Complex	Respiratory distress, Noncommunicating hydrocephalus, Respiratory failure, Hypomelanotic macule, ...	ORPHA:805
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Hypopigmentation of hair, Widow's peak, Coarse hair, High palate	ORPHA:1974
Doors Syndrome	Adrenal hyperplasia, Optic atrophy, Sirenomelia, Congenital hypothyroidism, Spina bifida occulta	ORPHA:79500
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal si...	ORPHA:51
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Familial Dysautonomia	Orthostatic hypotension, Acrocyanosis, Optic atrophy, Heterochromia iridis	ORPHA:1764
Ataxia-Telangiectasia-Like Disorder 2	Cerebellar atrophy, Neurodegeneration, Ataxia, Dysphagia	OMIM:615919
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Cardiorespiratory arrest, Abnormal au...	ORPHA:293987
Acute Disseminated Encephalomyelitis	Ataxia, Involuntary movements, Diaphragmatic paralysis, Abnormal pyramidal sign, Hemiparesis, CNS...	ORPHA:83597
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin	ORPHA:79404
Chromomycosis	Hypopigmented skin patches	ORPHA:182
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Mucopolysaccharidosis, Type Vii	Hirsutism, Macroglossia, Coarse hair, Neurodegeneration, Thick eyebrow	OMIM:253220
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit...	ORPHA:99889
Diets-Jongmans Syndrome	Gliosis, Duodenal atresia	OMIM:618846
Abetalipoproteinemia	Abnormality of retinal pigmentation, Respiratory failure	ORPHA:14
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, Large placenta, Spinal dysraphism, Restrictive ventilatory defect, Respiratory failu...	ORPHA:96334
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema	OMIM:613658
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Trichiasis, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal infla...	ORPHA:95455
Mosaic Trisomy 20	Cleft palate, Hypopigmented streaks, Depigmentation/hyperpigmentation of skin	ORPHA:1724
Japanese Encephalitis	Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Fa...	ORPHA:79139
Double Outlet Left Ventricle	Cyanosis, Tachypnea	ORPHA:3427
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Restrictive ventilatory defect, Cough, Exertional ...	OMIM:233450
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Cerebral Amyloid Angiopathy, Itm2B-Related, 1	Tremor, Spasticity, Hypertonia, Rigidity	OMIM:176500
Hyperoxaluria, Primary, Type I	Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy	OMIM:259900
Cardiac Valvular Dysplasia 2	Central cyanosis	OMIM:620067
Kallmann Syndrome	Ataxia, Tremor, Paraplegia, Seizure, Breast hypoplasia	ORPHA:478
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Respiratory insufficiency due to muscle weakn...	ORPHA:273
Cowden Syndrome	Hypopigmented skin patches, Melanocytic nevus, Hamartomatous polyposis, Furrowed tongue, Macroglo...	ORPHA:201
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Pulmonary arterial hypertension, Cyanosis, Exertional dyspnea	ORPHA:99050
Otopalatodigital Syndrome, Type Ii	Spina bifida, Hydrocephalus, Respiratory insufficiency, Respiratory failure, Stillbirth, Umbilica...	OMIM:304120
Aortic Arch Interruption	Respiratory distress, Cyanosis, Tachypnea, Exertional dyspnea	ORPHA:2299
Tetraamelia Syndrome 1	Adrenal gland agenesis, Hydrocephalus	OMIM:273395
Familial Tumoral Calcinosis	Hypopigmented skin patches	ORPHA:53715
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure	ORPHA:731
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Cochlear degeneration, Hearing impairment	ORPHA:95433
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Spastic tetraplegia, Hypertonia, Dystonia, CNS demyelination, Cerebral cortical atrophy	OMIM:620024
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Hypermelanotic macule, Upper airway obstruction, P...	ORPHA:740
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Paraparesis, Paraplegia, Hemiparesis, Recurrent gastroenteritis, Leukodystrophy	ORPHA:79124
Hemophagocytic Lymphohistiocytosis, Familial, 2	Ataxia, Tetraplegia, Hypertonia, Hemiplegia, CNS demyelination	OMIM:603553
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Myhre Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:139210
Tetragametic Chimerism	Hypopigmented skin patches	ORPHA:199310
Monosomy 18Q	Seizure, Low anterior hairline, Abnormal myelination	ORPHA:1600
Dermatomyositis	Telangiectasia of the skin, Erythema, Respiratory insufficiency, Acrocyanosis, Pulmonary arterial...	ORPHA:221
Cutis Laxa, Autosomal Recessive, Type Iid	Gliosis	OMIM:617403
Oculocerebrorenal Syndrome Of Lowe	Sparse scalp hair, Clonus, Fine hair, Seizure, Gastroesophageal reflux, Constipation, Generalized...	ORPHA:534
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pul...	ORPHA:97214
Fraser Syndrome 2	Respiratory failure	OMIM:617666
X-Linked Intellectual Disability, Nascimento Type	Lumbar hypertrichosis, Abnormal hair whorl, Synophrys, Patchy hypo- and hyperpigmentation, Low po...	ORPHA:163956
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Abnormal myelination	ORPHA:67045
Primary Hyperoxaluria	Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor	ORPHA:416
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h...	OMIM:210720
Glycogen Storage Disease Ii	Macroglossia, Abnormal CNS myelination, Diaphragmatic paralysis	OMIM:232300
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Vascu...	ORPHA:48435
Spondyloenchondrodysplasia With Immune Dysregulation	Hypopigmented skin patches on arms, Hypermelanotic macule, Vitiligo	OMIM:607944
Sarcoidosis	Abnormality of the gastrointestinal tract, Alopecia, Parotitis, Facial palsy, Enlargement of paro...	ORPHA:797
Acute Transverse Myelitis	Paraparesis, Babinski sign, Paraplegia, Paralytic ileus, Abnormality of extrapyramidal motor func...	ORPHA:139417
Cockayne Syndrome Type 3	Dry hair, Premature graying of hair, Seizure, Abnormal myelination, Demyelinating peripheral neur...	ORPHA:90324
Atypical Werner Syndrome	Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Abnormal hair morphology, ...	ORPHA:79474
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency	Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia	ORPHA:1578
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Respiratory failure, Emphysema, Optic atrophy, Optic nerve hypoplasia	ORPHA:500150
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Umbilical hernia, Ecchy...	ORPHA:287
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Respiratory failure	ORPHA:2636
Pallister-Killian Syndrome	Sparse scalp hair, Anal stenosis, Alopecia, Sparse eyelashes, Intestinal malrotation, Supernumera...	OMIM:601803
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Microcolon, Ileal atresia	OMIM:619351
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Leukodystrophy	ORPHA:370997
Restrictive Dermopathy	Short nail, Sparse eyebrow, Aplasia/Hypoplastia of the eccrine sweat glands, Submucous cleft hard...	ORPHA:1662
X-Linked Intellectual Disability, Snyder Type	Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation, Cleft palate, High palate	ORPHA:3063
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Cyanosis, Paroxysmal dy...	ORPHA:99125
Isolated Complex I Deficiency	Ataxia, Leukodystrophy	ORPHA:2609
Truncus Arteriosus	Cyanosis, Tachypnea	ORPHA:3384
Mend Syndrome	Cleft palate, High palate, Spotty hypopigmentation, Abnormal auditory evoked potentials	ORPHA:401973
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Cardiac Valvular Dysplasia 1	Cyanosis	OMIM:212093
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Umbilical hernia, Acrocyanosis, Apnea	ORPHA:285
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hematochezia, High, narrow palate, Leukodystrophy	OMIM:619575
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:51608
Mend Syndrome	High palate, Spotty hypopigmentation	OMIM:300960
Primrose Syndrome	Sparse scalp hair, Ataxia, Absent facial hair, Synophrys, Seizure, Neurodegeneration, Absent axil...	OMIM:259050
Heart Defects, Congenital, And Other Congenital Anomalies	Colon perforation, Intestinal malrotation, Microcolon	OMIM:600001
Congenitally Corrected Transposition Of The Great Arteries	Cyanosis	ORPHA:216694
Peroxisome Biogenesis Disorder 1B	Leukodystrophy	OMIM:601539
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Abnormal myelination	ORPHA:309854
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata	OMIM:303600
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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