Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Uncombable Hair Syndrome 2 |
|
Pili canaliculi, Uncombable hair, Juvenile cataract |
OMIM:617251 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Myelopathy, Htlv-1-Associated |
|
Spastic paraparesis, Myelopathy, Abnormal pyramidal sign |
OMIM:159580 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Trichomegaly |
|
Cataract, Long eyelashes |
OMIM:190330 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract, Abnormality of skin pigmentation |
OMIM:300719 |
Tietz Syndrome |
|
Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of... |
ORPHA:42665 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract, Generalized hyperpigmentation |
ORPHA:2253 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Corneal Dystrophy, Groenouw Type I |
|
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Griscelli Syndrome, Type 3 |
|
Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes |
OMIM:609227 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Nevus Comedonicus Syndrome |
|
Abnormal hair morphology, Spina bifida occulta, Spina bifida, Cataract |
ORPHA:64754 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Frontal Encephalocele |
|
Hydrocephalus, Encephalocele, Spina bifida |
ORPHA:1931 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract, Chorioretinal coloboma |
OMIM:274205 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis |
OMIM:105500 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Spinocerebellar tract degeneration, Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Woolly Hair |
|
Cataract, Sparse lateral eyebrow, Fine hair, Sparse body hair, Abnormal pupil morphology, Slow-gr... |
ORPHA:170 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract, Fragile nails |
ORPHA:254704 |
Acalvaria |
|
Holoprosencephaly, Hydrocephalus, Spina bifida, Postaxial hand polydactyly |
ORPHA:945 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Griscelli Syndrome, Type 1 |
|
Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large... |
OMIM:214450 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases |
|
Camptodactyly, Talipes equinovarus, Spina bifida |
OMIM:211960 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Waardenburg Syndrome Type 1 |
|
Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Thic... |
ORPHA:894 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Aplasia/Hypoplasia of the radius, Anencephaly, Spina bifida |
ORPHA:2476 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Griscelli Syndrome Type 3 |
|
Iris hypopigmentation, Hypopigmentation of hair, Partial albinism |
ORPHA:79478 |
Acropectorovertebral Dysplasia |
|
Short distal phalanx of finger, Broad thumb, Synostosis of carpal bones, Finger syndactyly, Campt... |
ORPHA:957 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Vocal cord paralysis, Tremor |
OMIM:158580 |
Cataract-Microcornea Syndrome |
|
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy |
ORPHA:1377 |
Yemenite Deaf-Blind Hypopigmentation Syndrome |
|
Microcornea, Chorioretinal coloboma, White forelock, Numerous pigmented freckles, Iris coloboma, ... |
OMIM:601706 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis |
OMIM:606777 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Alopecia, Aplasia/Hypoplasia of the iris, Corneal opacity, Hypopigmentation of hair, Pe... |
ORPHA:1067 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Monilethrix |
|
Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, Slow-growing hair, Brittle hai... |
ORPHA:573 |
Pupillary Membrane, Persistence Of |
|
Persistent pupillary membrane, Developmental cataract, Megalocornea |
OMIM:178900 |
Schisis Association |
|
Micromelia, Anencephaly, Encephalocele, Spina bifida |
ORPHA:63862 |
Waardenburg Syndrome, Type 2F |
|
Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi... |
OMIM:619947 |
Craniorachischisis |
|
Spinal dysraphism, Myelomeningocele, Sirenomelia, Cervical spina bifida, Anencephaly |
ORPHA:63260 |
Albinism, Oculocutaneous, Type Iii |
|
Partial albinism, Albinism, Red hair |
OMIM:203290 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Athetosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
Chiari Malformation Type Ii |
|
Cervical myelopathy, Myelomeningocele, Syringomyelia, Opisthotonus, Hydrocephalus, Spina bifida, ... |
OMIM:207950 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... |
ORPHA:71277 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Aplasia Cutis Congenita |
|
Toe syndactyly, Spinal dysraphism, Finger syndactyly |
ORPHA:1114 |
Microphthalmia/Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Caudal Duplication |
|
Myelomeningocele, Spinal cord lesion, Spina bifida |
ORPHA:1756 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Albinism, Oculocutaneous, Type Iv |
|
Albinism, Hypopigmentation of hair, Blue irides |
OMIM:606574 |
Cataract 9, Multiple Types |
|
Cataract, Microcornea, Progressive cataract, Developmental cataract, Iris coloboma |
OMIM:604219 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Cataract, Corneal arcus |
OMIM:618463 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Joubert Syndrome 15 |
|
Exencephaly, Preaxial polydactyly |
OMIM:614464 |
Anterior Segment Dysgenesis 8 |
|
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... |
OMIM:617319 |
Sirenomelia |
|
Aplasia/Hypoplasia of the radius, Sirenomelia, Spina bifida |
ORPHA:3169 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Waardenburg Syndrome, Type 1 |
|
Premature graying of hair, Myelomeningocele, Partial albinism, Thick eyebrow, White forelock, Het... |
OMIM:193500 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Waardenburg Syndrome, Type 4B |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Whit... |
OMIM:613265 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Cataract, Aniridia, Microcornea |
OMIM:106230 |
Megalocornea |
|
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... |
OMIM:309300 |
Albinism-Deafness Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ... |
ORPHA:998 |
Uncombable Hair Syndrome |
|
Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair |
ORPHA:1410 |
Hidrotic Ectodermal Dysplasia |
|
Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey... |
ORPHA:189 |
Waardenburg Syndrome, Type 2A |
|
Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc... |
OMIM:193510 |
Hereditary Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Retinitis Pigmentosa 40 |
|
Cataract, Bone spicule pigmentation of the retina |
OMIM:613801 |
Albinism-Deafness Syndrome |
|
Albinism, Patchy hypo- and hyperpigmentation, Piebald skin depigmentation, Ocular albinism |
OMIM:300700 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis |
ORPHA:640 |
Vogt-Koyanagi-Harada Disease |
|
Cataract, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, Vit... |
ORPHA:3437 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Abnormal fingernail morphology, Cataract |
ORPHA:2278 |
Cataract 47 |
|
Cataract, Microcornea |
OMIM:612018 |
Exfoliation Syndrome |
|
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... |
OMIM:177650 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Anophthalmia Plus Syndrome |
|
Deviation of finger, Spina bifida |
ORPHA:1104 |
Czeizel-Losonci Syndrome |
|
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, 2-3 finger syndactyly, H... |
ORPHA:2437 |
Ermine Phenotype |
|
Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig... |
OMIM:227010 |
Clouston Syndrome |
|
Cataract, Alopecia, Sparse eyebrow, Small nail, Fine hair, Alopecia totalis, Nail dystrophy, Spar... |
OMIM:129500 |
Camptodactyly Syndrome, Guadalajara Type 1 |
|
Short distal phalanx of finger, Toe syndactyly, Short toe, Camptodactyly of finger, Hallux valgus... |
ORPHA:1327 |
Isolated Klippel-Feil Syndrome |
|
Spina bifida |
ORPHA:2345 |
Piebald Trait |
|
Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,... |
OMIM:172800 |
Intellectual Developmental Disorder, Autosomal Dominant 72 |
|
Spina bifida |
OMIM:620439 |
Oculocutaneous Albinism, Type Viii |
|
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:619165 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
Woolly Hair Nevus |
|
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl... |
ORPHA:79414 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
Cataract 10, Multiple Types |
|
Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract |
OMIM:600881 |
Aminopterin/Methotrexate Embryofetopathy |
|
Spinal dysraphism, Finger syndactyly, Micromelia, Encephalocele, Aplasia/Hypoplasia of the thumb,... |
ORPHA:1908 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Aniridia 2 |
|
Lens subluxation, Cataract, Aniridia, Iris coloboma |
OMIM:617141 |
Albinism, Oculocutaneous, Type Ib |
|
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin |
OMIM:606952 |
Fountain Syndrome |
|
Short distal phalanx of finger, Coarse metaphyseal trabecularization, Abnormal metacarpal morphol... |
ORPHA:3219 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Aniridia-Intellectual Disability Syndrome |
|
Cataract, Aniridia, Ectopia lentis |
ORPHA:1068 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma, Chorioretinal coloboma |
OMIM:120433 |
Ulnar Hemimelia |
|
Abnormal upper limb bone morphology, Short forearm, Radial bowing, Carpal synostosis, Radial club... |
ORPHA:93320 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Short distal phalanx of finger, Short thumb, Preaxial hand polydactyly, Abnormal thumb morphology... |
ORPHA:1120 |
Cataract 1, Multiple Types |
|
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract |
OMIM:116200 |
Leber Congenital Amaurosis 7 |
|
Cataract, Keratoconus |
OMIM:613829 |
Leber Congenital Amaurosis |
|
Cataract, Keratoconus, Abnormality of retinal pigmentation, Encephalocele |
ORPHA:65 |
Albinism, Oculocutaneous, Type Ii |
|
Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp... |
OMIM:203200 |
Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Hypo... |
ORPHA:895 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... |
OMIM:225200 |
Pelvis-Shoulder Dysplasia |
|
Fifth finger distal phalanx clinodactyly, Hydranencephaly, Camptodactyly of finger, Mesomelic/rhi... |
ORPHA:2839 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract, Umbilical hernia |
ORPHA:1373 |
Oculocutaneous Albinism Type 3 |
|
Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent... |
ORPHA:79433 |
Hypokalemic Periodic Paralysis |
|
Respiratory paralysis, Paralysis, Periodic hypokalemic paresis |
ORPHA:681 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... |
OMIM:269400 |
Coats Disease |
|
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris |
ORPHA:190 |
Piebald Trait-Neurologic Defects Syndrome |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom... |
ORPHA:2885 |
Iniencephaly |
|
Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Encephalocele, Syringomyelia... |
ORPHA:63259 |
Autosomal Dominant Keratitis |
|
Cataract, Microcornea, Keratitis, Abnormal corneal limbus morphology, Aniridia, Corneal neovascul... |
ORPHA:2334 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Wildervanck Syndrome |
|
Lens subluxation, Meningocele, Low posterior hairline |
ORPHA:3456 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Spina bifida occulta, Anencephaly, Hydrocephalus |
OMIM:182940 |
Fibular Hemimelia |
|
Toe syndactyly, Finger syndactyly, Short tibia, Fibular aplasia, Genu valgum, Talipes equinovarus... |
ORPHA:93323 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis |
OMIM:605285 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Cataract, Microcornea |
OMIM:619082 |
Piebaldism |
|
Hypopigmented skin patches, White forelock, Heterochromia iridis, White eyebrow, White eyelashes,... |
ORPHA:2884 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Col... |
OMIM:610256 |
Retinitis Pigmentosa 9 |
|
Cataract, Bone spicule pigmentation of the retina |
OMIM:180104 |
Nail-Patella Syndrome |
|
Keratoconus, Microcornea, Cataract, Ridged nail, Anonychia, Lester's sign, Spina bifida, Concave ... |
OMIM:161200 |
Leber Congenital Amaurosis 6 |
|
Cataract, Keratoconus |
OMIM:613826 |
Cataract 3, Multiple Types |
|
Developmental cataract, Sutural cataract, Nuclear pulverulent cataract, Cerulean cataract |
OMIM:601547 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis |
OMIM:616286 |
Erythrokeratodermia Variabilis |
|
Cataract, Alopecia, Irregular hyperpigmentation, Abnormal hair morphology, Generalized hirsutism,... |
ORPHA:317 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Broad distal phalanx of finger, Spinal dysraphism, Flared metaphysis, Hypoplasia of the capital f... |
OMIM:603546 |
Retinitis Pigmentosa 84 |
|
Cataract, Bone spicule pigmentation of the retina, Macular coloboma |
OMIM:618220 |
Spinocerebellar Ataxia Type 3 |
|
Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyramidal sign, Vocal cord par... |
ORPHA:98757 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Rhizomelic Chondrodysplasia Punctata |
|
Sparse body hair, Spina bifida occulta, Alopecia, Cataract |
ORPHA:177 |
Peters Anomaly |
|
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... |
ORPHA:708 |
Amish Lethal Microcephaly |
|
Spina bifida |
ORPHA:99742 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant |
|
Cataract, Alopecia, Sparse eyebrow, Keratitis, Nail dystrophy, Sparse eyelashes, Nail dysplasia, ... |
OMIM:612843 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract, Nail dystrophy, Alopecia totalis |
ORPHA:1366 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Chorioretinal coloboma, Posterior embryotoxon, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis |
OMIM:162500 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Retinitis Pigmentosa 4 |
|
Cataract, Pigmentary retinopathy, Bone spicule pigmentation of the retina |
OMIM:613731 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Isolated Anencephaly/Exencephaly |
|
Anencephaly |
ORPHA:1048 |
Leber Congenital Amaurosis 8 |
|
Cataract, Keratoconus, Pigmentary retinopathy, Nummular pigmentation of the fundus, Macular coloboma |
OMIM:613835 |
Cataract 5, Multiple Types |
|
Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Isolated Aniridia |
|
Cataract, Aniridia, Peters anomaly |
ORPHA:250923 |
Neu-Laxova Syndrome 2 |
|
Rocker bottom foot, Finger syndactyly, Toe syndactyly, Spina bifida |
OMIM:616038 |
Cerebrocostomandibular Syndrome |
|
Hydranencephaly, Myelomeningocele, Spina bifida, Clinodactyly of the 5th finger, Meningocele |
ORPHA:1393 |
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis |
|
Cataract, Alopecia, Sparse eyebrow, Sparse eyelashes, Nail dysplasia |
OMIM:615704 |
Hereditary Bullous Dystrophy, Macular Type |
|
Cataract, Alopecia, Atrichia, Nail dystrophy, Spotty hypopigmentation, Hyperpigmentation of the s... |
ORPHA:1867 |
Toxin-Mediated Infectious Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy |
ORPHA:230800 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Hand tremor, Postural tremor, Babinski sign, Abnormal spinal cord morphology, Hydrocephalus, Voca... |
ORPHA:99947 |
Chromosome 17P13.1 Deletion Syndrome |
|
Broad hallux, Umbilical hernia, Long hallux, Arachnodactyly, Hallux valgus, Hydrocephalus, Spina ... |
OMIM:613776 |
Aniridia 3 |
|
Cataract, Aniridia |
OMIM:617142 |
Coloboma, Ocular, Autosomal Recessive |
|
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma |
OMIM:216820 |
Aniridia And Absent Patella |
|
Cataract, Aniridia |
OMIM:106220 |
Humero-Radial Synostosis |
|
Meningocele, Iris coloboma, Chorioretinal coloboma |
ORPHA:3265 |
Primary Angiitis Of The Central Nervous System |
|
Tetraparesis, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia |
ORPHA:140989 |
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi |
|
Macrodactyly, Sandal gap, Spinal dysraphism, Tethered cord |
OMIM:612918 |
Hallermann-Streiff Syndrome |
|
Cataract, Sparse eyebrow, Fine hair, Chorioretinal coloboma, Optic disc coloboma, Sparse eyelashe... |
OMIM:234100 |
Amoebic Keratitis |
|
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... |
ORPHA:67043 |
Ifap Syndrome 2 |
|
Cataract, Atrichia, Keratitis, Nail dystrophy, Keratoconjunctivitis sicca, Sparse hair |
OMIM:619016 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Lens subluxation, Cataract |
OMIM:614292 |
Phakomatosis Pigmentokeratotica |
|
Patchy alopecia, Coloboma, Spina bifida, Melanocytic nevus |
ORPHA:2874 |
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome |
|
Cataract, Hydrocephalus, Retinal coloboma |
OMIM:601794 |
Oculocutaneous Albinism Type 4 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ... |
ORPHA:79435 |
Morning Glory Disc Anomaly |
|
Cataract, Abnormality of retinal pigmentation, Optic disc coloboma |
ORPHA:35737 |
Focal Dermal Hypoplasia |
|
Alopecia, Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Umbilical hernia, Spina... |
ORPHA:2092 |
Limb Body Wall Complex |
|
Broad hallux, Myelomeningocele, Aplasia of the proximal phalanges of the hand, Cutaneous finger s... |
ORPHA:2369 |
Cloacal Exstrophy |
|
Myelomeningocele, Abnormal tibia morphology, Talipes equinovarus, Spina bifida, Abnormal fibula m... |
ORPHA:93929 |
Trisomy 18 |
|
Cataract, Microcornea, Abnormality of retinal pigmentation, Anencephaly, Abnormal toenail morphol... |
ORPHA:3380 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Sacral Defect With Anterior Meningocele |
|
Dermal sinus tract, Hydromyelia, Myelomeningocele, Myeloschisis, Hydrocephalus, Bilateral talipes... |
OMIM:600145 |
Diabetic Embryopathy |
|
Spinal dysraphism, Hydrocephalus |
ORPHA:1926 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Joubert Syndrome 9 |
|
Astigmatism, Cataract, Encephalocele |
OMIM:612285 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Trisomy 20P |
|
Highly arched eyebrow, Coarse hair, Umbilical hernia, Thick eyebrow, Low anterior hairline, Low p... |
ORPHA:261318 |
Hereditary Mucoepithelial Dysplasia |
|
Cataract, Alopecia, Fine hair, Sparse hair, Corneal dystrophy |
ORPHA:1839 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Lens subluxation, Cataract, Microphakia, Abnormality of retinal pigmentation |
ORPHA:171844 |
Machado-Joseph Disease Type 3 |
|
Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Abn... |
ORPHA:276244 |
Fryns Microphthalmia Syndrome |
|
Neural tube defect |
OMIM:600776 |
Lumbar Syndrome |
|
Myelomeningocele, Spina bifida |
ORPHA:83628 |
Muscle-Eye-Brain Disease |
|
Cataract, Meningocele, Holoprosencephaly, Hydrocephalus |
ORPHA:588 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Unilateral vocal cord paresis, Spinal dysraphism, Tethered cord |
OMIM:617660 |
Machado-Joseph Disease Type 1 |
|
Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Bab... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Spasticity, Spinocerebellar tract degeneration, Abnormality of extrapyramidal motor function, Bab... |
ORPHA:276241 |
Cronkhite-Canada Syndrome |
|
Cataract, Alopecia, Dystrophic toenail, Sparse body hair, Abnormal fingernail morphology, General... |
ORPHA:2930 |
Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Microcornea, Fine hair, Abnormal fingernail morphology, Keratoconjunctivitis sicca, Abn... |
ORPHA:1806 |
Anterior Segment Dysgenesis 1 |
|
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... |
OMIM:107250 |
Neu-Laxova Syndrome |
|
Cataract, Pterygium, Abnormal hair morphology, Spina bifida, Abnormal eyelash morphology |
ORPHA:2671 |
Isolated Posterior Meningocele |
|
Hydromyelia, Paraplegia, Hydrocephalus, Lipomyelomeningocele, Hypertonia, Meningocele, Occipital ... |
ORPHA:268810 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Encephalocele, Exencephaly, Broad hall... |
ORPHA:2211 |
Cahmr Syndrome |
|
Lamellar cataract, Generalized hypertrichosis |
OMIM:211770 |
Mosaic Trisomy 9 |
|
Micromelia, Finger clinodactyly, Camptodactyly of finger, Talipes equinovarus, Spina bifida, Rock... |
ORPHA:99776 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Hyperferritinemia With Or Without Cataract |
|
Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract |
OMIM:600886 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Developmental cataract, Anterior polar cataract |
OMIM:615188 |
Meckel Syndrome, Type 2 |
|
Encephalocele, Polydactyly, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, An... |
OMIM:603194 |
Thrombocytopenia-Absent Radius Syndrome |
|
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Patellar aplas... |
OMIM:274000 |
Gm2-Gangliosidosis, Ab Variant |
|
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... |
OMIM:272750 |
Vacterl With Hydrocephalus |
|
Aqueductal stenosis, Hypoplasia of the radius, Hydrocephalus, Spina bifida |
ORPHA:3412 |
Ermine Phenotype |
|
Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ... |
ORPHA:999 |
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia |
|
Generalized hypotrichosis, Nuclear cataract, Sparse eyebrow, Absent hair, Trichorrhexis nodosa, R... |
ORPHA:1010 |
Vitreoretinal Degeneration, Snowflake Type |
|
Corneal guttata, Cataract |
OMIM:193230 |
Deaf Blind Hypopigmentation Syndrome, Yemenite Type |
|
Iris hypopigmentation, Microcornea, Hypopigmented skin patches, Hyperpigmentation of the skin, Mu... |
ORPHA:3214 |
Cataract 23, Multiple Types |
|
Lamellar cataract, Microcornea, Nuclear cataract |
OMIM:610425 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Frontofacionasal Dysplasia |
|
Cataract, Microcornea, Limbal dermoid, Absent inner eyelashes, Encephalocele, Aplasia/Hypoplasia ... |
ORPHA:1791 |
Basal Cell Nevus Syndrome 1 |
|
Short distal phalanx of the thumb, Polydactyly, Short 4th metacarpal, Brachydactyly, Hydrocephalu... |
OMIM:109400 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Waardenburg Syndrome |
|
Hypopigmented skin patches, Premature graying of hair, Myelomeningocele, Abnormal eyebrow morphol... |
ORPHA:3440 |
Gyrate Atrophy Of Choroid And Retina |
|
Abnormal hair morphology, Cataract, Subcapsular cataract |
ORPHA:414 |
Oculocutaneous Albinism Type 2 |
|
Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat... |
ORPHA:79432 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
X-Linked Adrenoleukodystrophy |
|
Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, Paralysis, Paraparesis |
ORPHA:43 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Premature Aging Syndrome, Okamoto Type |
|
Abnormal hair morphology, Cataract |
OMIM:601811 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Cataract, Chorioretinal coloboma, Corneal scarring, Buphthalmos, Iris coloboma |
OMIM:212550 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Periodic paralysis, Tremor |
OMIM:613239 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Oculoauricular Syndrome |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Retin... |
OMIM:612109 |
Albinism, Oculocutaneous, Type Ia |
|
White hair, Ocular albinism, Astigmatism, Absent skin pigmentation, Blue irides, Albinism, Hypopi... |
OMIM:203100 |
Neu-Laxova Syndrome 1 |
|
Hydranencephaly, Toe syndactyly, Finger syndactyly, Clinodactyly, Micromelia, Small placenta, Rad... |
OMIM:256520 |
Amyotrophic Lateral Sclerosis |
|
Spasticity, Amyotrophic lateral sclerosis, Fasciculations, Babinski sign, Paralysis, Motor neuron... |
ORPHA:803 |
Pagod Syndrome |
|
Meningocele, Encephalocele, Spina bifida |
ORPHA:991 |
Campomelic Dysplasia |
|
Spinal dysraphism, Short 1st metacarpal, Shortening of all phalanges of the toes, Patellar hypopl... |
OMIM:114290 |
Oculocutaneous Albinism Type 1B |
|
Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi... |
ORPHA:79434 |
Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
Foodborne Botulism |
|
Diaphragmatic paralysis, Paralysis, Cerebral palsy |
ORPHA:228371 |
Snakebite Envenomation |
|
Respiratory paralysis, Paralysis, Pseudobulbar paralysis |
ORPHA:449285 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Alopecia, Hypopigmented skin patches, Abnormal fingernail morphology, Opacification of ... |
ORPHA:3453 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short 5th finger, Broad thumb, Broad hallux, Preaxial hand polydactyly, Overlapping toe, 2-3 toe ... |
ORPHA:508498 |
Neurofibromatosis, Type I |
|
Inguinal freckling, Lisch nodules, Multiple cafe-au-lait spots, Hydrocephalus, Spina bifida, Axil... |
OMIM:162200 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Microphthalmia With Brain And Digit Anomalies |
|
Cataract, Microcornea, Chorioretinal coloboma, Nail dysplasia, Sclerocornea, Iris coloboma |
ORPHA:139471 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Iris hypopigmentation, Cataract, White hair, Ocular albinism, Hydrocephalus, Generalized hypopigm... |
ORPHA:2720 |
Vater/Vacterl Association |
|
Occipital encephalocele, Short thumb, Preaxial polydactyly, Radioulnar synostosis, Triphalangeal ... |
OMIM:192350 |
Aicardi Syndrome |
|
Cataract, Sparse lateral eyebrow, Spina bifida, Optic disc coloboma |
OMIM:304050 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Alopecia, Dural ectasia, Hypopigmentation of the skin, Fair hair, Vitiligo, Hydrocephalus, Spina ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Alopecia, Dural ectasia, Hypopigmentation of the skin, Fair hair, Vitiligo, Hydrocephalus, Spina ... |
ORPHA:363958 |
Aniridia-Absent Patella Syndrome |
|
Cataract, Aniridia |
ORPHA:1069 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Jacobsen Syndrome |
|
Cataract, Microcornea, Spina bifida, Aplasia/Hypoplasia of the eyebrow, Iris coloboma |
ORPHA:2308 |
Cartilage-Hair Hypoplasia |
|
Small hand, Spinal dysraphism, Rhizomelia, Micromelia, Abnormal diaphysis morphology, Abnormal di... |
ORPHA:175 |
Rubinstein-Taybi Syndrome 1 |
|
Cataract, Facial hypertrichosis, Highly arched eyebrow, Long eyelashes, Thick eyebrow, Frontal up... |
OMIM:180849 |
Fanconi Anemia |
|
Cataract, Irregular hyperpigmentation, Hypopigmented skin patches, Umbilical hernia, Astigmatism,... |
ORPHA:84 |
Otopalatodigital Syndrome, Type Ii |
|
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... |
OMIM:304120 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane... |
OMIM:221900 |
Oculocutaneous Albinism Type 1A |
|
Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi... |
ORPHA:79431 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Persistent pupillary membra... |
ORPHA:91495 |
Japanese Encephalitis |
|
Pill-rolling tremor, Cogwheel rigidity, Myoclonus, Tremor, Abnormality of extrapyramidal motor fu... |
ORPHA:79139 |
Holoprosencephaly |
|
Highly arched eyebrow, Spinal dysraphism, Chorioretinal coloboma, Thick eyebrow, Branchial anomal... |
ORPHA:2162 |
Femoral-Facial Syndrome |
|
Short fifth metatarsal, Toe syndactyly, Preaxial hand polydactyly, Camptodactyly of finger, Preax... |
OMIM:134780 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Tethered cord, Spina bifida, Tapered finger |
OMIM:619480 |
Mucoepithelial Dysplasia, Hereditary |
|
Cataract, Alopecia, Coarse hair, Chronic monilial nail infection, Opacification of the corneal st... |
OMIM:158310 |
Norrie Disease |
|
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... |
OMIM:310600 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis |
ORPHA:83601 |
22Q11.2 Deletion Syndrome |
|
Cataract, Hypopigmented skin patches, Umbilical hernia, Corneal neovascularization, Posterior emb... |
ORPHA:567 |
Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Anisocoria, Retinal pigment epithelial mottling |
OMIM:619649 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Neonatal death, Arachnodactyly, Bowing of the long bones, Spina bifida, Long fingers |
OMIM:614437 |
Aniridia 1 |
|
Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular... |
OMIM:106210 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Incontinentia Pigmenti |
|
Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea... |
OMIM:308300 |
Aprosencephaly Syndrome |
|
Finger aplasia, Aprosencephaly, Anencephaly |
OMIM:207770 |
Fuchs Heterochromic Iridocyclitis |
|
Cataract, Corneal keratic precipitates, Iris atrophy, Heterochromia iridis, Anterior chamber infl... |
ORPHA:263479 |
Chondrodysplasia Punctata, Autosomal Dominant |
|
Cataract, Sparse hair, Coarse hair |
OMIM:118650 |
Poliomyelitis |
|
Myelitis, Fasciculations, Hyperkinetic movements, Paralysis, Paraparesis |
ORPHA:2912 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Hypertonia, Cerebral palsy, Fasciculations |
ORPHA:682 |
Enhanced S-Cone Syndrome |
|
Cataract, Pigmentary retinopathy |
OMIM:268100 |
Schwannomatosis, Vestibular |
|
Cataract, Posterior subcapsular cataract, Inguinal freckling, Lisch nodules, Juvenile posterior s... |
OMIM:101000 |
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Cataract, Microcornea, Ectopia pupillae, Long eyelashes, Coloboma, Sclerocornea |
OMIM:615877 |
Brittle Cornea Syndrome |
|
Corneal scarring, Abnormality of hair pigmentation, Decreased corneal thickness, Corneal dystroph... |
ORPHA:90354 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Broad distal phalanx of finger, Spinal dysraphism, Short 1st metacarpal, Metaphyseal spurs, Short... |
ORPHA:96334 |
Sympathetic Ophthalmia |
|
Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterior chamber, Corneal ... |
ORPHA:79098 |
Tick-Borne Encephalitis |
|
Tongue fasciculations, Myelitis, Incoordination, Speech apraxia, Tremor, Hyperkinetic movements, ... |
ORPHA:297 |
Arnold-Chiari Malformation Type I |
|
Myelopathy, Gait ataxia, Syringomyelia, Babinski sign, Vocal cord paralysis, Progressive cerebell... |
ORPHA:268882 |
Thyrotoxic Periodic Paralysis |
|
Periodic hypokalemic paresis, Tremor, Respiratory paralysis, Paralysis, Tetraplegia |
ORPHA:79102 |
Encephalocraniocutaneous Lipomatosis |
|
Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Tetraplegia, Hypertonia |
ORPHA:2396 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Periodic hypokalemic paresis |
ORPHA:37553 |
Exstrophy-Epispadias Complex |
|
Hydrocephalus, Spina bifida |
ORPHA:322 |
Rift Valley Fever |
|
Paralysis, Decerebrate rigidity, Paraparesis, Hemiparesis |
ORPHA:319251 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Tetraparesis, Myoclonus, Paralysis, Hypertonia, Ataxia |
OMIM:203700 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic paralysis, Periodic hypokalemic paresis |
OMIM:170390 |
Gitelman Syndrome |
|
Paralysis, Ataxia |
OMIM:263800 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Spastic paraplegia, Limb ataxia, Paralysis, Oculomotor apraxia, Hydrocephalus, Hypertonia |
ORPHA:2072 |
African Trypanosomiasis |
|
Involuntary movements, Myelitis, Myelopathy, Fasciculations, Abnormal central motor function, Tre... |
ORPHA:3385 |
Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis |
OMIM:259730 |
Distal Renal Tubular Acidosis |
|
Paralysis |
ORPHA:18 |
Gitelman Syndrome |
|
Paralysis |
ORPHA:358 |
Tyrosinemia, Type I |
|
Periodic paralysis |
OMIM:276700 |
Tsh-Secreting Pituitary Adenoma |
|
Periodic hypokalemic paresis, Tremor |
ORPHA:91347 |
Medulloblastoma |
|
|
OMIM:155255 |
Pituitary Stalk Interruption Syndrome |
|
|
ORPHA:95496 |