Albinism-Microcephaly-Digital Anomalies Syndrome |
|
Albinism |
OMIM:203340 |
Senile Plaque Formation |
|
Senile plaques |
OMIM:269800 |
Graying Of Hair, Precocious |
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Premature graying of hair |
OMIM:139100 |
Occipital Hair, White Lock Of |
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White hair, Abnormal hair morphology |
OMIM:310900 |
Albinism-Deafness Syndrome |
|
Piebaldism, Partial albinism, Patchy hypo- and hyperpigmentation, Albinism |
OMIM:300700 |
Dyschromatosis Universalis Hereditaria 1 |
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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 |
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Mediosternal, longitudinal streak of hypopigmentation |
OMIM:155200 |
Albinism-Deafness Syndrome |
|
Hypopigmented skin patches, Partial albinism, Piebaldism, Heterochromia iridis, Irregular hyperpi... |
ORPHA:998 |
Raindrop Hypopigmentation |
|
Hypopigmentation of the skin |
OMIM:179500 |
Lentiginosis, Inherited Patterned |
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Hypermelanotic macule |
OMIM:151001 |
Hairy Palms And Soles |
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Hypermelanotic macule |
OMIM:139650 |
Neurofibromatosis Type 6 |
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Freckling, Multiple cafe-au-lait spots |
ORPHA:2678 |
Dowling-Degos Disease 1 |
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Progressive reticulate hyperpigmentation |
OMIM:179850 |
Linear Atrophoderma Of Moulin |
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Linear hyperpigmentation |
ORPHA:140933 |
Griscelli Syndrome, Type 3 |
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Large clumps of pigment irregularly distributed along hair shaft, Silver-gray hair, White eyelashes |
OMIM:609227 |
Acroleukopathy, Symmetric |
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Symmetric great toe depigmentation |
OMIM:102000 |
Hyperpigmentation Of Fuldauer And Kuijpers |
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Hyperpigmentation of the skin |
OMIM:145200 |
Hyperpigmentation, Familial Progressive, 1 |
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Hyperpigmentation of the skin |
OMIM:614233 |
Nasal Hyperpigmentation, Familial Transverse |
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Hyperpigmentation of the skin |
OMIM:161530 |
Loose Anagen Hair Syndrome |
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Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
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Neurodegeneration |
OMIM:613068 |
Albinism, Oculocutaneous, Type Iii |
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Partial albinism, Albinism, Red hair |
OMIM:203290 |
Piebald Trait |
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Partial albinism, Piebaldism, Heterochromia iridis, White forelock, Absent pigmentation of the ve... |
OMIM:172800 |
Tietz Syndrome |
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Abnormality of skin pigmentation, Hypopigmentation of hair, White eyebrow, Hypopigmentation of th... |
ORPHA:42665 |
Uv-Sensitive Syndrome 2 |
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Freckling |
OMIM:614621 |
Griscelli Syndrome Type 3 |
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Partial albinism, Hypopigmentation of hair, Iris hypopigmentation |
ORPHA:79478 |
Granulomas, Congenital Cerebral |
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Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
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Neonatal death |
OMIM:305690 |
Deafness, Congenital, With Total Albinism |
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Albinism |
OMIM:220900 |
Griscelli Syndrome, Type 1 |
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Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melanin pigment aggrega... |
OMIM:214450 |
Dilution, Pigmentary |
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Hypopigmentation of hair, Iris hypopigmentation, Hypopigmentation of the skin |
OMIM:126070 |
Aganglionosis, Total Intestinal |
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Total intestinal aganglionosis |
OMIM:202550 |
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect |
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Hyperpigmentation of the skin |
OMIM:202355 |
Dyschromatosis Universalis Hereditaria |
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Hypopigmented skin patches, Spotty hypopigmentation, Freckling, Multiple cafe-au-lait spots, Hype... |
ORPHA:241 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon |
OMIM:613711 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Cerebellar Ataxia And Albinism |
|
Albinism |
OMIM:258300 |
Diamond-Blackfan Anemia 17 |
|
Hyperpigmentation of the skin |
OMIM:617409 |
Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
Book Syndrome |
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Premature graying of hair |
OMIM:112300 |
Piebald Trait With Neurologic Defects |
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White forelock, Ataxia, Absent pigmentation of the ventral chest |
OMIM:172850 |
Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
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Alopecia of scalp, Dystrophic toenail, Alopecia, Hypopigmentation of the skin, Onychogryposis of ... |
OMIM:617294 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Oculocutaneous Albinism Type 3 |
|
Blue irides, Absent skin pigmentation, Freckling, Generalized hypopigmentation of hair, Hypopigme... |
ORPHA:79433 |
Neuroectodermal Melanolysosomal Disease |
|
Optic atrophy, Generalized hyperpigmentation, Rigidity, Hypopigmentation of the skin, Subcortical... |
ORPHA:33445 |
Dowling-Degos Disease 2 |
|
Hypomelanotic macule, Reticular hyperpigmentation |
OMIM:615327 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Hypopigmented skin patches, Irregular hyperpigmentation, Melanocytic nevus |
ORPHA:2435 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abnormality of enteric ganglion morphology, Enterocolitis |
OMIM:142623 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dysphagia, Axonal loss, Cerebellar atrophy, Rigidity, Chorea, Peripheral demyelination, Neurodege... |
OMIM:617672 |
Angioma, Tufted |
|
Abnormality of skin pigmentation |
OMIM:607859 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon |
OMIM:600501 |
Congenital Disorder Of Glycosylation, Type I/Iix |
|
Abnormality of skin pigmentation, Seizure, Epileptic spasm, Infantile spasms |
OMIM:212067 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Aganglionic megacolon |
OMIM:235750 |
Albinism, Oculocutaneous, Type Vii |
|
Albinism |
OMIM:615179 |
Piebaldism |
|
Hypopigmented skin patches, Piebaldism, White eyelashes, Heterochromia iridis, White forelock, Hy... |
ORPHA:2884 |
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive |
|
Hypopigmented skin patches, Vitiligo, Multiple lentigines, Progressive hyperpigmentation, Hyperme... |
OMIM:145250 |
Ermine Phenotype |
|
White hair, Vitiligo, Albinism, White eyelashes, Spotty hyperpigmentation, White eyebrow |
OMIM:227010 |
X-Linked Complicated Corpus Callosum Dysgenesis |
|
Aganglionic megacolon |
ORPHA:1497 |
Hermansky-Pudlak Syndrome 3 |
|
Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:614072 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia |
OMIM:106750 |
Uncombable Hair Syndrome |
|
Abnormal hair morphology, White hair, Coarse hair, Woolly hair, Patchy alopecia, Trichodysplasia |
ORPHA:1410 |
Griscelli Syndrome, Type 2 |
|
Silver-gray hair, Hypopigmentation of the skin, Seizure, Accumulation of melanosomes in melanocyt... |
OMIM:607624 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Hydrocephalus |
OMIM:304100 |
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency |
|
Hypopigmentation of hair, Partial albinism |
ORPHA:90023 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Onion bulb formation, Absent eyebrow, Absent eyelashes, Demyelinating sensory neuropathy, Demyeli... |
OMIM:182815 |
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin |
ORPHA:2819 |
Glucocorticoid Deficiency 3 |
|
Hyperpigmentation of the skin |
OMIM:609197 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Acti... |
OMIM:180800 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Blue irides, Aganglionic megacolon, White eyelashes, Heterochromia ir... |
OMIM:613265 |
Waardenburg Syndrome, Type 2B |
|
Heterochromia iridis, White forelock, Premature graying of hair |
OMIM:600193 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
Tietz Albinism-Deafness Syndrome |
|
Blue irides, White eyebrow, Generalized hypopigmentation, White eyelashes |
OMIM:103500 |
Oculocutaneous Albinism |
|
Absent skin pigmentation, Generalized hypopigmentation, Ocular albinism, White hair, Generalized ... |
ORPHA:55 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Progressive spasticity, Cerebellar atrophy, Head titubation, Hirsutism, Leukodystrophy, Ataxia, C... |
ORPHA:527497 |
Pili Bifurcati |
|
Abnormal hair morphology, Abnormality of hair texture |
ORPHA:720 |
Thumb Deformity And Alopecia |
|
Increased groin pigmentation with raindrop depigmentation, Alopecia |
OMIM:188150 |
Appendicitis, Proneness To |
|
Abnormal large intestine morphology |
OMIM:107700 |
Oculocutaneous Albinism Type 2 |
|
Blue irides, Absent skin pigmentation, Abnormality of retinal pigmentation, Hyperpigmented nevi, ... |
ORPHA:79432 |
Waardenburg Syndrome, Type 4A |
|
Blue irides, Hypopigmented skin patches, Aganglionic megacolon, Leukodystrophy, White eyelashes, ... |
OMIM:277580 |
Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Neuronal loss in central nervous system, Gliosis, Tetraplegia, Spasticity, Cerebral corti... |
OMIM:614959 |
Elejalde Disease |
|
Silver-gray hair, Hypopigmentation of the skin, Seizure, Ataxia, Accumulation of melanosomes in m... |
OMIM:256710 |
Drug-Induced Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90157 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Segmental peripheral d... |
OMIM:606482 |
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation |
|
Nail dystrophy, Mottled pigmentation of the trunk and proximal extremities, Nail dysplasia, Onych... |
OMIM:131960 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Segmental peripheral demyelinati... |
OMIM:607734 |
Albinism, Oculocutaneous, Type V |
|
Albinism |
OMIM:615312 |
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Seizure, Status epilepticus, Delayed myelination |
OMIM:618331 |
Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Symmetrical progressive peripheral demyelination, Demyelinating sensory neuropathy, Progressive g... |
ORPHA:208981 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Babinski sign, Dysphagia, CNS demyelination, Peripheral demyelination, Decreased nerve conduction... |
OMIM:249900 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Intestinal pseudo-obstruction, Functional intestinal obstruction, Intestin... |
OMIM:243180 |
Colonic Varices Without Portal Hypertension |
|
Intestinal bleeding, Colonic varices |
OMIM:120440 |
Optic Atrophy With Demyelinating Disease Of Cns |
|
Optic atrophy, CNS demyelination, Peripheral demyelination, Hemiparesis, Ataxia |
OMIM:165200 |
Krabbe Disease |
|
Progressive spasticity, Optic atrophy, CNS demyelination, Vomiting, Neurodegeneration, Peripheral... |
OMIM:245200 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Premature graying of hair, Intention tremor |
OMIM:190200 |
Periventricular Nodular Heterotopia 8 |
|
Seizure, Delayed myelination |
OMIM:618185 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Gliosis, Hypertonia, Spasticity, Cerebral atrophy, CNS hypomyelination, Delay... |
OMIM:615095 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Dysdiadochokinesis, Optic atrophy |
OMIM:311050 |
Albinism, Oculocutaneous, Type Iv |
|
Blue irides, Hypopigmentation of hair, Albinism |
OMIM:606574 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Dysphagia, Cerebellar atrophy, Frequent falls, Torticollis, Gliosis, Spasticity, Cerebral atrophy... |
OMIM:618369 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Pyknoachondrogenesis |
|
Stillbirth |
OMIM:265880 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Short-segment aganglionic megacolon |
OMIM:619465 |
Oculocerebral Syndrome With Hypopigmentation |
|
Hypopigmentation of the skin, Silver-gray hair |
OMIM:257800 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Axonal loss, Motor conduction block, Symmetric periphe... |
ORPHA:206594 |
Microcephaly-Albinism-Digital Anomalies Syndrome |
|
Iris hypopigmentation, Hypopigmentation of the skin |
ORPHA:2513 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Abnormality of extrapyramidal motor function, Leukodystrophy, Tremor, Ataxia, Seizure, Spasticity... |
OMIM:614561 |
Epidermolysis Bullosa Simplex With Mottled Pigmentation |
|
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Alopecia, Nail dysplasia, Mixed hy... |
ORPHA:79397 |
Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Cerebellar atrophy, Frequent falls, Torticollis, Dysmetria, Chorea, Periph... |
ORPHA:397946 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Rigidity, Choreoathetosis, Cerebral hypomyelination, Leukodystrophy, Tremor, ... |
OMIM:612438 |
Waardenburg Syndrome, Type 2A |
|
Partial albinism, Albinism, White eyelashes, Heterochromia iridis, White forelock, White eyebrow,... |
OMIM:193510 |
Albinism, Oculocutaneous, Type Ia |
|
Blue irides, Absent skin pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of... |
OMIM:203100 |
Intellectual Developmental Disorder With Poor Growth And With Or Without Seizures Or Ataxia |
|
Seizure, Gait ataxia, Incoordination, Fair hair |
OMIM:618808 |
Neuroblastoma, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:613013 |
Null Syndrome |
|
Optic atrophy, Peripheral demyelination, Decreased nerve conduction velocity, Ataxia, CNS hypomye... |
ORPHA:280234 |
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome |
|
White forelock, Macular hyperpigmented dermopathy |
ORPHA:2779 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Aganglionic megacolon, White forelock, Heterochromia iridis, Hypopigm... |
ORPHA:895 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
CNS demyelination, Rigidity, Neuronal loss in central nervous system, Gliosis, Bradykinesia, Apra... |
OMIM:221820 |
Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Babinski sign, Head titubation, Rigidity, Choreoathetosis, Cerebral hypom... |
OMIM:608804 |
Albinism, Oculocutaneous, Type Vi |
|
Abnormal hair morphology, Generalized hypopigmentation |
OMIM:113750 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
OMIM:614895 |
Anonychia With Flexural Pigmentation |
|
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Abnormal hair morph... |
ORPHA:69125 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Babinski sign, Dysphagia, Cerebellar atrophy, Dysmetria, Leukodystrophy, Ataxia,... |
OMIM:607694 |
Albinism, Ocular, With Late-Onset Sensorineural Deafness |
|
Giant melanosomes in melanocytes, Albinism |
OMIM:300650 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue |
OMIM:174300 |
Piebald Trait-Neurologic Defects Syndrome |
|
Hypopigmented skin patches, Aganglionic megacolon, Abnormal eyebrow morphology, Heterochromia iri... |
ORPHA:2885 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypopigmented skin patches, Peripheral demyelination, Decreased nerve conduction velocity, Spasti... |
OMIM:609136 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Onion bulb formation, Segmental peripheral demyelination, Segmental peripheral demyelination/remy... |
OMIM:606483 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Leukodystrophy, Tremor, Ataxia, Spasticity |
OMIM:616494 |
L1 Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Aqueductal stenosis |
ORPHA:275543 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Gliosis, Axonal degeneration, Fasciculations, Tetraplegia, Decreased number of perip... |
OMIM:604484 |
Immunodeficiency Due To Defect In Mapbp-Interacting Protein |
|
Hypopigmentation of the skin |
OMIM:610798 |
Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Tremor, Ataxia, Seizure, Status epilepticus, Spasticity, Pigmentary retinopathy |
OMIM:614307 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Onion bulb formation, Hypertrophic nerve changes, Decreased motor nerve conduction velocity, Segm... |
OMIM:601098 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Cogwh... |
ORPHA:497764 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Dysphagia, High palate, Hypertrichosis, Cleft palate, Myelin-dependent glios... |
OMIM:201550 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebellar atrophy, Cerebral hypomyelination, Tetraplegia, Cerebral atrophy, CNS hypomyelination,... |
OMIM:300475 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Neuronal loss in central nervous system, Gliosis, Bradykine... |
OMIM:143100 |
Episodic Ataxia, Type 1 |
|
Babinski sign, Spastic gait, Tremor, Slurred speech, Incoordination, Episodic ataxia |
OMIM:160120 |
Spinocerebellar Ataxia 17 |
|
Dysphagia, Cerebellar atrophy, Rigidity, Dysmetria, Chorea, Neuronal loss in central nervous syst... |
OMIM:607136 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Onion bulb formation, Babinski sign, Decreased motor nerve conduction velocity, Optic atrophy, Ax... |
OMIM:609260 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Cerebral hypomyelination, Tetraplegia, Corpus callosum atrophy, Brain atrophy... |
ORPHA:369939 |
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex |
|
Dystrophic toenail, Absent toenail, Ridged nail, Hyperpigmentation of the skin, Hypopigmentation ... |
ORPHA:89838 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Pigmentary retinopathy, Generalized... |
OMIM:610951 |
Hirschsprung Disease |
|
Functional abnormality of the gastrointestinal tract, Intestinal obstruction, Aganglionic megacol... |
ORPHA:388 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Pallor of dorsal columns of the spinal cord, Amyotrophic lateral sclerosis, Axonal degeneration, ... |
OMIM:602433 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Axonal loss, Caudate atrophy, Peripheral demyelination, Myoclonus, Seizure, Spasti... |
OMIM:221770 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
Griscelli Syndrome Type 1 |
|
Partial albinism, White hair, Seizure, Ataxia, Hypertonia, Iris hypopigmentation, Premature grayi... |
ORPHA:79476 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
ORPHA:2786 |
Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Hyperpigmentation... |
ORPHA:189 |
Albinism, Oculocutaneous, Type Ii |
|
Blue irides, Albinism, Hypopigmentation of the skin, Freckles in sun-exposed areas, Hypopigmentat... |
OMIM:203200 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Tremor, Abnormal peripheral action potential amplitude, Abnormality of the seventh cranial... |
ORPHA:90117 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Highly arched eyebrow, Hirsutism, CNS demyelination, Low anterior hairline, Peripheral demyelinat... |
OMIM:220111 |
Epilepsy, Progressive Myoclonic, 1B |
|
Babinski sign, Dysmetria, Sensory axonal neuropathy, Tremor, Atonic seizure, Generalized myocloni... |
OMIM:612437 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles |
OMIM:601706 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Peri... |
OMIM:118200 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form |
|
Spotty hypopigmentation, Hypomelanotic macule, Nail dystrophy, Spotty hyperpigmentation, Mixed hy... |
ORPHA:79399 |
Homocarnosinosis |
|
Abnormality of skin pigmentation, Abnormality of retinal pigmentation |
OMIM:236130 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Hydrocephalus |
OMIM:613603 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral demyelination, Peripheral axonal neuropathy, Paraparesis |
ORPHA:231445 |
Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Peripheral demyelination, Neuronal loss in central nervous system, Nausea |
ORPHA:71211 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
|
Peripheral demyelination, Polyneuritis, Decreased nerve conduction velocity |
OMIM:162600 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Clumsiness, Postural tremor, Babinski sign, Dysphagia, Dysmetria, Spastic dysarthria, Leukodystro... |
ORPHA:447896 |
Developmental And Epileptic Encephalopathy 5 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Cerebral a... |
OMIM:613477 |
Leukodystrophy, Hypomyelinating, 13 |
|
Clonus, Leukodystrophy, Ataxia, Hypertonia, Spasticity, Delayed myelination |
OMIM:616881 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Segmental peripheral demyelinati... |
OMIM:162500 |
Gemignani Syndrome |
|
Hypopigmented skin patches |
ORPHA:2074 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Onion bulb formation, Peripheral demyelination, Decreased nerve conduction velocity |
OMIM:608236 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Highly arched eyebrow, Cerebellar atrophy, Long eyelashes, Spasticity, Cerebral atrophy, CNS hypo... |
OMIM:619286 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis, Decreased motor nerve conduction velocity, Decreased number of large peripheral myelin... |
OMIM:605285 |
Ondine Syndrome |
|
Aganglionic megacolon, Abnormality of the autonomic nervous system |
ORPHA:661 |
Spinocerebellar Ataxia 25 |
|
Babinski sign, Cerebellar atrophy, Vomiting, Ataxia, Decreased number of peripheral myelinated ne... |
OMIM:608703 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Stereotypy, Tremor, Ataxia, Sei... |
OMIM:617862 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb pos... |
ORPHA:98769 |
Hereditary Methemoglobinemia |
|
Athetosis, Cerebellar atrophy, Temporal cortical atrophy, Cerebral hypomyelination, Global brain ... |
ORPHA:621 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Tremor, Ataxia, Seizure, Spasticity, Delayed CNS myelination, Frontal upsweep of h... |
OMIM:300983 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Myel... |
OMIM:118220 |
Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Onion bulb formation, Frequent falls |
OMIM:618279 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Babinski sign, Peripheral axonal degeneration, Chorea,... |
OMIM:604168 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis |
OMIM:617839 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
White Forelock With Malformations |
|
Poliosis, White forelock |
OMIM:277740 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Myoclonus, Tremor, Ataxia, Seizure |
OMIM:616187 |
Spinocerebellar Ataxia 23 |
|
Babinski sign, Cerebellar atrophy, CNS demyelination, Dysmetria, Neuronal loss in central nervous... |
OMIM:610245 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Abnormal lower m... |
OMIM:105550 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Giant Axonal Neuropathy |
|
Babinski sign, Spasticity, Woolly hair, CNS hypomyelination, Pili canaliculi |
ORPHA:643 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Peripheral axonal neuropathy, Tremor, Ataxia, Spasticity |
OMIM:611105 |
Hyperbilirubinemia, Rotor Type |
|
Abnormality of skin pigmentation |
OMIM:237450 |
Waardenburg-Shah Syndrome |
|
Abnormality of retinal pigmentation, Abnormal intestine morphology, Aganglionic megacolon, Abnorm... |
ORPHA:897 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Hyperpigmentation of the skin, Death in childhood |
OMIM:302000 |
Osteoporosis And Oculocutaneous Hypopigmentation Syndrome |
|
Hypopigmentation of the skin, Ocular albinism |
OMIM:601220 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Cerebellar atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Tremo... |
OMIM:615362 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Gliosis, Tremor, Ataxia, Incoordination, Spasticity, Limb ataxia, Gait ataxia |
OMIM:213200 |
Spinocerebellar Ataxia 43 |
|
Rigidity, Tremor, Ataxia, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
OMIM:617018 |
Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Delayed myelination |
OMIM:617391 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Axonal degeneration, Peripheral hypomyelination, Basal lamina onion bulb formation, CNS hypomyeli... |
OMIM:214400 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Dysphagia, Cerebellar atrophy, Dysmetria, Cerebral hypomyelination, Leukodystrophy, Intention tre... |
OMIM:614381 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Developmental And Epileptic Encephalopathy 79 |
|
CNS hypomyelination, Frontotemporal cerebral atrophy, Cerebral cortical atrophy, Spasticity |
OMIM:618559 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Babinski sign, Dysphagia, Decreased motor nerve conduction velocity, Periph... |
OMIM:302800 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Pelizaeus-Merzbacher Disease, Transitional Form |
|
Spastic tetraparesis, CNS hypomyelination |
ORPHA:280224 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Motor conduction block, Peripheral demyelination, Decreased nerve conduction velocity, Abnormal n... |
ORPHA:2932 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency |
OMIM:611722 |
4H Leukodystrophy |
|
Dysphagia, Cerebellar atrophy, Dysmetria, Cerebral hypomyelination, Abnormality of extrapyramidal... |
ORPHA:289494 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Bilateral tonic-clonic seizure, Tremor, Seizure, Focal sensory seizure, Focal sensory seizure wit... |
OMIM:615400 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Babinski sign, Clonus, Myoclonic spasms, Rigidity, Neuronal loss in central nervous system, Glios... |
OMIM:614498 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination, Abnormal pyramidal sign |
ORPHA:85163 |
Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Spastic tetraplegia, Spasticity, Cerebral atrophy, CNS hypomyelination |
OMIM:619125 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Onion bulb formation, Peripheral demyelination, Decreased number of large peripheral myelinated n... |
OMIM:608340 |
Spinocerebellar Ataxia Type 25 |
|
Babinski sign, Vomiting, Decreased number of large peripheral myelinated nerve fibers, Diffuse ce... |
ORPHA:101111 |
Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia, Cavitating leukodystrophy |
OMIM:619061 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Onion bulb formation, Babinski sign, Clonus, Peripheral axonal neuropathy, Optic atrophy, Spastic... |
OMIM:615035 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Facial palsy, Frontal cortical atrophy, Amyotrophic lateral sclerosis, Temporal cortical atrophy |
OMIM:167320 |
Spinocerebellar Ataxia 37 |
|
Dysphagia, Cerebellar atrophy, Frequent falls, Tremor, Ataxia |
OMIM:615945 |
Muscular Dystrophy, Congenital, With Severe Central Nervous System Atrophy And Absence Of Large Myelinated Fibers |
|
Cerebral hypomyelination, Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy |
OMIM:601170 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
CNS hypomyelination, Ataxia |
ORPHA:88637 |
Diaminopentanuria |
|
Seizure, Ataxia, Spasticity, Neurodegeneration |
OMIM:222350 |
Urocanase Deficiency |
|
Blue irides, Ataxia, Fair hair, Tremor |
OMIM:276880 |
Early-onset Alzheimer disease with cerebral amyloid angiopathy |
|
Neurofibrillary tangles |
DECIPHER:48 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Degeneration of anterior horn cells |
OMIM:159950 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal loss, Frequent falls, Dec... |
OMIM:611228 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Hemiparesis, Tremor, Seizure, Ataxia, Hemiplegia |
OMIM:141500 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Onion bulb formation, Acute demyelinating polyneuropathy, Impaired oropharyngeal swallow response |
ORPHA:98916 |
Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon |
ORPHA:2151 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gliosis, Spastici... |
OMIM:616239 |
Leukoencephalopathy with metaphyseal chondrodysplasia |
|
Spastic paraplegia, Babinski sign, Diffuse cerebral atrophy, Tremor |
OMIM:300660 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Babinski sign, Leukodystrophy, Spastic ataxia, Spastic diplegia, Spasticity, Abnormal pyramidal sign |
OMIM:616859 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Neurodegeneration, Tremor, Ataxia, Apraxia, Spasticity |
OMIM:615889 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Axonal loss, Frequent falls, Peripheral demyelination, Vocal cord... |
ORPHA:101097 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Cranial nerve compression, Amyotrophic lateral sclerosis, Brain atrophy, Abnormal motor neuron mo... |
ORPHA:52430 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:614373 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
CNS hypomyelination, High palate, Myoclonus, Delayed myelination |
OMIM:616158 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Clumsiness, Hypertonia, Slurred speech, Tetraparesis, Decreased number of peripheral myelinated n... |
ORPHA:2386 |
Hypopigmentation, Organomegaly, And Delayed Myelination And Development |
|
Hypopigmentation of the skin |
OMIM:618541 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Facial palsy, Degeneration of anterior horn cells |
OMIM:301830 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Axonal degeneration/regeneration, Dystrophic toenail, ... |
OMIM:600882 |
Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Axonal regeneration |
OMIM:615185 |
Dermotrichic Syndrome |
|
Aganglionic megacolon |
ORPHA:99688 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Seizure, Myoclonus, Tremor |
OMIM:611092 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, High palate, Spastic paraplegia |
OMIM:309560 |
Leukoencephalopathy, Arthritis, Colitis, And Hypogammaglobulinema |
|
Dysphagia, Inflammation of the large intestine, Cerebral hypomyelination, Chronic gastritis, Spas... |
OMIM:608809 |
Sporadic Creutzfeldt-Jakob Disease |
|
Babinski sign, Neuronal loss in central nervous system, Myoclonus, Abnormality of extrapyramidal ... |
ORPHA:204 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:118210 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Babinski sign, High palate, Cerebellar atrophy, Cerebral palsy, Gliosis, Spastic tetraplegia, Spa... |
OMIM:612936 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Delayed myelination, Leukodystrophy, Spasticity, Pigmentary retinopathy |
OMIM:617613 |
Developmental And Epileptic Encephalopathy 78 |
|
Cerebral palsy, Chorea, CNS hypomyelination, Spasticity |
OMIM:618557 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Dysphagia, Degeneration of the lateral corticospinal tracts, Weakness due to upper... |
ORPHA:275872 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Pelizaeus-Merzbacher disease |
|
Leukodystrophy, Abnormal CNS myelination |
DECIPHER:38 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Babinski sign, Cerebellar atrophy, Rigidity, Bilateral tonic-clonic seizure, Bradykinesia, Seizur... |
OMIM:300423 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Facial palsy, Abnormal lower motor neuron morphology |
OMIM:607641 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:613870 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Seizure, Hyperkinetic movements, Hemiballismus |
OMIM:616921 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6 |
|
Vitiligo |
OMIM:193200 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Babinski sign, Pigmentary retinopathy, Cerebellar atrophy, Delayed CNS myelination, Cerebral atro... |
OMIM:619090 |
Insensitivity To Pain With Hyperplastic Myelinopathy |
|
Abnormal peripheral myelination |
OMIM:147530 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Babinski sign, Lower limb spasticity, Ataxia, Spastic diplegia, CNS hypomyelination |
OMIM:615281 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Villous atrophy, Abnormality of the small intestine, Volvulus, Malabsorpti... |
ORPHA:95427 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Neuronal loss in central nervous system, Myoclonus, Tremor, Ataxia, Seizure, Tetraparesis, Spasti... |
OMIM:615924 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Abnormal myelination |
ORPHA:401840 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Severe demyelination of the white matter, Global brain atrophy, Gliosis, Abno... |
OMIM:236792 |
Leukodystrophy, Hypomyelinating, 10 |
|
Babinski sign, Leukodystrophy, Hyperkinetic movements, Spasticity, Cerebral atrophy, CNS hypomyel... |
OMIM:616420 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Segmental peripheral demyelination/remyelination, Axonal degeneration/regeneration |
OMIM:607791 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Rigidity, Neurodegeneration, Abnormality of extrapyramidal motor function, Br... |
OMIM:300894 |
Developmental And Epileptic Encephalopathy 93 |
|
Spastic tetraparesis, Cerebellar atrophy, CNS hypomyelination, Cerebral atrophy |
OMIM:618012 |
Congenital Cataracts, Hearing Loss, And Neurodegeneration |
|
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy |
OMIM:614482 |
Aland Island Eye Disease |
|
Albinism |
OMIM:300600 |
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1 |
|
Vitiligo |
OMIM:606579 |
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications |
|
Delayed CNS myelination, Cerebral atrophy |
OMIM:618875 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Gliosis |
OMIM:225753 |
Leukoencephalopathy With Vanishing White Matter |
|
Cerebral hypomyelination, Gliosis, CNS demyelination, Spasticity |
OMIM:603896 |
Waardenburg Syndrome, Type 2E |
|
Blue irides, Hypopigmented skin patches, Ocular albinism, Cerebral hypomyelination, White eyelash... |
OMIM:611584 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Peripheral demyelination, Axonal loss |
OMIM:616684 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Seizure, Optic atrophy, Peripheral demyelination, Spastic tetraplegia |
OMIM:618237 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Cerebral hypomyelination, Chorea, Spastic tetraparesis, Ataxia, Hypertonia, F... |
ORPHA:79097 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory insufficiency, Facial palsy, Respiratory failure, Respiratory distress, Restrictive v... |
OMIM:614399 |
Developmental And Epileptic Encephalopathy 39 |
|
Cerebral hypomyelination, Spasticity |
OMIM:612949 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Babinski sign, Axonal loss, Cerebellar atrophy, Dysmetria, Tremor, Ataxia, Seizure, Tongue fascic... |
OMIM:618170 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Decr... |
OMIM:145900 |
Bresek Syndrome |
|
Aganglionic megacolon, Optic nerve hypoplasia, Cleft palate, Neonatal death |
ORPHA:85284 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology, Decreased mo... |
OMIM:605253 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Heterochromia iridis, Premature graying of hair, Tremor |
ORPHA:66633 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Clonus, Dysphagia, Opisthotonus, Head titubation, Upper limb spasticity, Chorea, Amyotrophic late... |
ORPHA:300605 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Decre... |
OMIM:608673 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Progressive extrapyramidal movement disorder, Pseudobulbar paralysis, Dysmetria, Cerebral hypomye... |
ORPHA:438114 |
Amyotrophic Lateral Sclerosis 21 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Abnormal lower motor neuron m... |
OMIM:606070 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Orthostatic hypotension, Gliosis, Decreased nerve conduction velocity, Degeneration of anterior h... |
OMIM:118301 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Upper limb spasticity, Cataplexy, Atrophy/Degeneration affecting the brainste... |
OMIM:617193 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Myoclonus, Abnormality of extrapyramidal motor function,... |
OMIM:604218 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Spasticity, CNS hypomyelination, Delayed myelin... |
OMIM:618367 |
Galloway-Mowat Syndrome 5 |
|
Ataxia, Peripheral demyelination, Brain atrophy, Spasticity |
OMIM:617731 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Cerebellar atrophy, Gait ataxia, Spasticity |
ORPHA:217012 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Babinski sign, Optic atrophy, Cerebellar atrophy, Pontocerebellar atrophy, Frequent falls, Dysmet... |
ORPHA:171629 |
Classic Phenylketonuria |
|
Paraplegia, Hypopigmentation of the skin, Tremor, Seizure, Hypertonia, Hemiplegia, Hypopigmentati... |
ORPHA:79254 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Pachygyria, Aganglionic megacolon, Malabsorption |
ORPHA:452 |
Congenital Heart Defect-Round Face-Developmental Delay Syndrome |
|
Hypopigmentation of hair, Generalized hyperpigmentation |
ORPHA:1355 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Onion bulb formation, Optic atrophy, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616366 |
Combined Saposin Deficiency |
|
Babinski sign, CNS demyelination, Neuronal loss in central nervous system, Myoclonus, Fasciculati... |
OMIM:611721 |
Focal Facial Dermal Dysplasia Type I |
|
Spotty hypopigmentation, Low anterior hairline, Sparse lateral eyebrow, Absent eyelashes, Spotty ... |
ORPHA:79133 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Dysphagia, Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Babinski sign, Optic atrophy, Cerebellar atrophy, Dysmetria, Atrophy/Degeneration affecting the b... |
OMIM:612319 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Bilateral tonic-clonic seizure, Myoclonic seizure, Focal impaired awareness seizure, Tremor, Atax... |
OMIM:617831 |
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome |
|
Hypopigmented skin patches, Onychogryposis of fingernail, Fingernail dysplasia, Hyperpigmentation... |
ORPHA:2251 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Seizure, Myoclonus, Bilateral tonic-clonic seizure |
OMIM:615127 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema |
|
Generalized reticulate brown pigmentation, Spotty hyperpigmentation, Hyperpigmentation of the ski... |
ORPHA:158681 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Peripheral axonal neuropathy, Frequent falls, Myoclonus, Fasciculations, Tremor, A... |
OMIM:607317 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Hypopigmentation of the skin, Seizure, Ataxia, Iris hypopigmentation, Hypopigmentation of hair |
ORPHA:411515 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
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Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Developmental And Epileptic Encephalopathy 76 |
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Cerebellar atrophy, Upper limb spasticity, Lower limb spasticity, Delayed CNS myelination, Cerebr... |
OMIM:618468 |
Leigh Syndrome |
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Hypertrichosis, CNS demyelination, Gliosis, Ataxia, Spasticity, Pigmentary retinopathy |
OMIM:256000 |
Developmental And Epileptic Encephalopathy 97 |
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Tremor, Seizure, Stereotypical hand wringing, Epileptic spasm |
OMIM:619561 |
Generalized Epilepsy With Febrile Seizures-Plus |
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Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... |
ORPHA:36387 |
Charcot-Marie-Tooth Disease Type 4G |
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Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Motor conduction block, ... |
ORPHA:99953 |
Nemaline Myopathy 8 |
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Respiratory failure, Death in infancy, Facial palsy |
OMIM:615348 |
Spinocerebellar Ataxia 18 |
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Babinski sign, Cerebellar atrophy, Dysmetria, Progressive gait ataxia, Sensory axonal neuropathy,... |
OMIM:607458 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:607706 |
Combined Oxidative Phosphorylation Deficiency 14 |
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Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Myoclonus, Gliosis, Diffuse cer... |
OMIM:614946 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
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Tremor, Ataxia |
OMIM:213000 |
Pontocerebellar Hypoplasia, Type 1A |
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Basal ganglia gliosis, Degeneration of anterior horn cells |
OMIM:607596 |
Ddost-Cdg |
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Tremor, Oromotor apraxia, Gastroesophageal reflux, CNS hypomyelination |
ORPHA:300536 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
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Leukodystrophy, Spasticity |
OMIM:616370 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
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Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... |
ORPHA:266 |
Venular Insufficiency, Systemic |
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Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
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Cyanosis |
OMIM:185460 |
Neuropathy, Hereditary Sensory, X-Linked |
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Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Optic Atrophy 3, Autosomal Dominant |
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Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Charcot-Marie-Tooth Disease, Type 4B2 |
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Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decreased motor ner... |
OMIM:604563 |
Spinal Muscular Atrophy, Type I |
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Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Amyotrophic Lateral Sclerosis 1 |
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Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... |
OMIM:105400 |
Charcot-Marie-Tooth Disease, Type 4H |
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Onion bulb formation, Peripheral hypomyelination, Decreased number of peripheral myelinated nerve... |
OMIM:609311 |
Neuropathy, Congenital Hypomyelinating, 3 |
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Babinski sign, High palate, Cerebellar atrophy, Spasticity, CNS hypomyelination, Gastroesophageal... |
OMIM:618186 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Chorea, Myoclonus, Focal i... |
OMIM:618587 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
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Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105500 |
Oculocutaneous Albinism Type 4 |
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Abnormality of retinal pigmentation, Ocular albinism, White hair, Albinism, Hypopigmentation of t... |
ORPHA:79435 |
Spastic Paraplegia 6, Autosomal Dominant |
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Babinski sign, Clonus, Degeneration of the lateral corticospinal tracts, Spastic gait, Lower limb... |
OMIM:600363 |
Hermansky-Pudlak Syndrome 9 |
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Hypopigmentation of the skin, Ocular albinism |
OMIM:614171 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
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Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
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Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy |
OMIM:616437 |
Pick Disease Of Brain |
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Neuronal loss in central nervous system, Gliosis, Stereotypy |
OMIM:172700 |
Optic Atrophy, Hearing Loss, And Peripheral Neuropathy, Autosomal Recessive |
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Optic atrophy, Peripheral demyelination, Gait ataxia |
OMIM:258650 |
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15 |
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Dysphagia, Bilateral tonic-clonic seizure, Tongue thrusting, Hypopigmentation of the skin, Seizur... |
ORPHA:98795 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Bilateral tonic-clonic seizure, Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
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Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608030 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
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Onion bulb formation, Decreased motor nerve conduction velocity, Axonal degeneration/regeneration... |
OMIM:605588 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Clumsiness, Myoclonic status epilepticus, Dysphagia, Limb myoclonus, Typical absence seizure, Fre... |
ORPHA:2590 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
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Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:602099 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
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Babinski sign, Pseudobulbar paralysis, Symmetric peripheral demyelination, Leukodystrophy, Ataxia... |
OMIM:169500 |
Xeroderma Pigmentosum Variant |
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Freckles in sun-exposed areas, Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90342 |
Infantile Neuronal Ceroid Lipofuscinosis |
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Clumsiness, Dysphagia, Cerebellar atrophy, Myoclonic spasms, Increased neuronal autofluorescent l... |
ORPHA:79263 |
Developmental And Epileptic Encephalopathy 4 |
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Cerebral hypomyelination, Spastic tetraplegia, Tremor, Cerebral atrophy, Spastic paraplegia |
OMIM:612164 |
Seizures, Benign Familial Infantile, 3 |
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Cyanosis, Apnea |
OMIM:607745 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Athetosis, Paralysis, Dysphagia, Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
Glucocorticoid Deficiency 5 |
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Hyperpigmentation of the skin |
OMIM:617825 |
Amyotrophic Lateral Sclerosis 19 |
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Amyotrophic lateral sclerosis |
OMIM:615515 |
Interstitial Pneumonitis, Desquamative, Familial |
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Tachypnea, Cough, Respiratory distress, Cyanosis, Respiratory failure |
OMIM:263000 |
Spinocerebellar Ataxia 7 |
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Babinski sign, Dysphagia, Optic atrophy, Dysmetria, Chorea, Abnormality of extrapyramidal motor f... |
OMIM:164500 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
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CNS hypomyelination, Cerebellar vermis atrophy, Cerebral atrophy |
OMIM:615760 |
Laryngotracheal Angioma |
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Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
Vogt-Koyanagi-Harada Disease |
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Hypopigmented skin patches, Poliosis, Vitiligo, Abnormal eyebrow morphology, Sparse scalp hair, A... |
ORPHA:3437 |
Huntington Disease-Like 1 |
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Clumsiness, Involuntary movements, Cerebellar atrophy, Frequent falls, Dysmetria, Chorea, Gliosis... |
ORPHA:157941 |
Deafness-Vitiligo-Achalasia Syndrome |
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Hypopigmented skin patches |
ORPHA:3239 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
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Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Lo... |
OMIM:218000 |
Glutathionuria |
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Tremor |
OMIM:231950 |
Ring Chromosome 10 Syndrome |
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Aganglionic megacolon |
ORPHA:1438 |
Developmental And Epileptic Encephalopathy 75 |
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Babinski sign, Frontal cortical atrophy, Spasticity, CNS hypomyelination, Cerebral cortical atrophy |
OMIM:618437 |
Leukodystrophy, Hypomyelinating, 9 |
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Dysmetria, Abnormality of extrapyramidal motor function, Leukodystrophy, Intention tremor, Ataxia... |
OMIM:616140 |
Spastic Paraplegia 11, Autosomal Recessive |
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Babinski sign, Dysphagia, Knee clonus, Degeneration of the lateral corticospinal tracts, Spastic ... |
OMIM:604360 |
Adult Neuronal Ceroid Lipofuscinosis |
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Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Seizure, Spa... |
ORPHA:79262 |
Alexander Disease |
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Diffuse demyelination of the cerebral white matter, Ataxia, Spasticity |
OMIM:203450 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Cerebellar atrophy, Ataxia, Brain atrophy, Delayed CNS myelination, Tetraparesis, CNS hypomyelina... |
OMIM:619260 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
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Cerebellar atrophy, Limb hypertonia, Opisthotonus, Choreoathetosis, Tongue thrusting, Stereotypy,... |
OMIM:619580 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
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Peripheral demyelination, Decreased nerve conduction velocity |
ORPHA:99944 |
Congenital Neuronal Ceroid Lipofuscinosis |
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Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Spasticity, Diffuse demyelination of ... |
ORPHA:168486 |
Methemoglobinemia, Beta Type |
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Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
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Cyanosis |
OMIM:617973 |
Amyotrophic Lateral Sclerosis 11 |
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Amyotrophic lateral sclerosis |
OMIM:612577 |
Spinocerebellar Ataxia Type 20 |
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Cerebellar atrophy, Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, In... |
ORPHA:101110 |
Goldberg-Shprintzen Megacolon Syndrome |
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Aganglionic megacolon, Cleft palate, Pachygyria |
ORPHA:66629 |
Rhombencephalosynapsis |
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Aganglionic megacolon, Septo-optic dysplasia, Esophageal atresia, Anal atresia, Tracheoesophageal... |
ORPHA:59315 |
Haddad Syndrome |
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Death in infancy, Aganglionic megacolon, Gastroesophageal reflux, Abnormal autonomic nervous syst... |
ORPHA:99803 |
Spinocerebellar Ataxia Type 38 |
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Tremor, Cerebellar atrophy, Gait ataxia |
ORPHA:423296 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
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Amyotrophic lateral sclerosis |
OMIM:616208 |
Pelizaeus-Merzbacher Disease |
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Sudanophilic leukodystrophy, Dysphagia, Head titubation, Choreoathetosis, Abnormal CNS myelinatio... |
OMIM:312080 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Optic atrophy, Decreased sensory nerve conduction velocity, Peripheral demyelination, Bone spicul... |
OMIM:609033 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
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Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:205100 |
Waardenburg Syndrome Type 1 |
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Meningocele, Aganglionic megacolon, Cleft palate, Spina bifida |
ORPHA:894 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Asbestos Intoxication |
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Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis, Late ... |
ORPHA:2302 |
Adenylosuccinase Deficiency |
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Cerebellar atrophy, Opisthotonus, Cerebral hypomyelination, Myoclonus, Spasticity, Cerebral atrop... |
OMIM:103050 |
Pelizaeus-Merzbacher Disease, Classic Form |
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Athetosis, Cerebral hypomyelination, Abnormality of extrapyramidal motor function, Spastic tetrap... |
ORPHA:280219 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
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Rigidity, Bradykinesia, Tremor, Cerebral atrophy, Substantia nigra gliosis, Parkinsonism |
OMIM:600116 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
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Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
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Highly arched eyebrow, Lumbar hypertrichosis, Low anterior hairline, Bifid uvula, Hypertonia, CNS... |
OMIM:618622 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Metachromatic Leukodystrophy |
|
Babinski sign, Optic atrophy, Chorea, Peripheral demyelination, Decreased nerve conduction veloci... |
OMIM:250100 |
Harrod Syndrome |
|
Pyloric stenosis, High, narrow palate, Aganglionic megacolon, High palate, Malrotation of small b... |
OMIM:601095 |
Leukodystrophy, Hypomyelinating, 22 |
|
CNS hypomyelination, Lower limb hypertonia, Upper limb hypertonia |
OMIM:619328 |
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome |
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Irregular hyperpigmentation, Generalized hypopigmentation, Abnormal eyebrow morphology, Generaliz... |
ORPHA:1816 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency |
OMIM:616081 |
Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
Adult Krabbe Disease |
|
Clumsiness, Babinski sign, Hoffmann sign, CNS demyelination, Frequent falls, Peripheral demyelina... |
ORPHA:206448 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Gliosis, Hirsutism, Delayed myelination |
OMIM:214150 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Idiopathic Localized Lipodystrophy |
|
Hyperpigmentation of the skin, Hypopigmentation of the skin |
ORPHA:90158 |
Spinocerebellar Ataxia, X-Linked 3 |
|
Dysphagia, Cerebellar atrophy, Head titubation, Dysmetria, Neuronal loss in central nervous syste... |
OMIM:301790 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Focal impaired awareness seizu... |
ORPHA:330050 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
CNS hypomyelination, Ataxia, Lower limb spasticity |
ORPHA:320401 |
Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Myoclonus, Cogwheel rigidity, Limb dysmetria, Tremor, Cerebellar verm... |
ORPHA:363710 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Cerebellar atrophy, Tremor by anatomical site, Bradykinesia, Inten... |
ORPHA:98762 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon |
ORPHA:261222 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Highly arched eyebrow, Spastic tetraparesis, Cerebellar vermis atrophy, Delayed CNS myelination, ... |
OMIM:616154 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Dysphagia, Myoclonus, Tongue thrusting, Hypopigmentation of the skin, Delayed myelination, Tremor... |
ORPHA:98794 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Cerebellar atrophy, Bilateral tonic-clonic seizure, Dysmetria, Myoclonic seizure, ... |
OMIM:617810 |
Developmental And Epileptic Encephalopathy 29 |
|
Chorea, Spasticity, Cerebral atrophy, CNS hypomyelination, Blepharospasm |
OMIM:616339 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Ataxia, Leukodystrophy, Abnormal pyramidal sign |
OMIM:619196 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Babinski sign, Dysphagia, CNS demyelination, Leukodystrophy, Hypertonia, Pigmentary retinopathy |
OMIM:264470 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Optic atrophy, Small nail, Stereotypy, Tremor, Spastic tetraparesis, Seizure |
OMIM:619470 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Rigidity, Dysmetria, Seizure, Tremor, Generalized myoclonic seizure |
OMIM:618090 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Rigidity, Bradykinesia, Decreased amplitude of sensory... |
OMIM:619279 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Waardenburg Syndrome, Type 3 |
|
Aganglionic megacolon |
OMIM:148820 |
Spongiform E |