Nystagmus
Symptom Information:
Symptom ID: | HPO:0000639 | ||||||||||||||||||||||||||
Synonyms: |
|
||||||||||||||||||||||||||
Quality: | |||||||||||||||||||||||||||
Cross references: |
|
||||||||||||||||||||||||||
Is a (Direct Parents): |
|
||||||||||||||||||||||||||
Is a (Whole tree): |
HPO:
All(HPO:0000001) Phenotypic abnormality(HPO:0000118) Abnormality of the eye(HPO:0000478) Abnormal eye physiology(HPO:0012373) Abnormality of eye movement(HPO:0000496) Abnormal involuntary eye movements(HPO:0012547) Nystagmus(HPO:0000639) MedDRA: Nervous system disorders(MedDRA:10029205) Neurological disorders NEC(MedDRA:10029305) Coordination and balance disturbances(MedDRA:10072984) Nystagmus(HPO:0000639) |
||||||||||||||||||||||||||
Database Frequency: | 555 / 7739 | ||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
15q24 microdeletion syndrome | (Orphanet:94065) |
16q24.3 microdeletion syndrome | (Orphanet:261250) |
19p13.12 microdeletion syndrome | (Orphanet:254346) |
1p36 deletion syndrome | (Orphanet:1606) |
2,4-@DIENOYL-CoA REDUCTASE DEFICIENCY | (OMIM:616034) |
3-methylglutaconic aciduria type 3 | (Orphanet:67047) |
3-phosphoglycerate dehydrogenase deficiency | (Orphanet:79351) |
48,XXYY syndrome | (Orphanet:10) |
6q16 deletion syndrome | (Orphanet:171829) |
8p11.2 deletion syndrome | (Orphanet:251066) |
ACHROMATOPSIA 4 | (OMIM:613856) |
AICARDI-GOUTIERES SYNDROME 1 | (OMIM:225750) |
AICARDI-GOUTIERES SYNDROME 3 | (OMIM:610329) |
AICARDI-GOUTIERES SYNDROME 6 | (OMIM:615010) |
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | (OMIM:615510) |
ALG2-CDG | (Orphanet:79326) |
ALTERNATING HEMIPLEGIA OF CHILDHOOD 1 | (OMIM:104290) |
AMYOTROPHIC DYSTONIC PARAPLEGIA | (OMIM:105300) |
ARIMA SYNDROME | (OMIM:243910) |
ATAXIA, SPASTIC, CHILDHOOD-ONSET, AUTOSOMAL RECESSIVE, WITH OPTICATROPHY AND MENTAL RETARDATION | (OMIM:270500) |
ATAXIA-MICROCEPHALY-CATARACT SYNDROME | (OMIM:208870) |
ATAXIA-OCULOMOTOR APRAXIA 3 | (OMIM:615217) |
ATTRV122I amyloidosis | (Orphanet:85451) |
Achromatopsia | (Orphanet:49382) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Acrocallosal syndrome | (Orphanet:36) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Adult-onset autosomal dominant leukodystrophy | (Orphanet:99027) |
Adult-onset autosomal recessive cerebellar ataxia | (Orphanet:284289) |
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia | (Orphanet:52055) |
Aicardi syndrome | (Orphanet:50) |
Albright hereditary osteodystrophy | (Orphanet:665) |
Alexander disease | (Orphanet:58) |
Alpha-N-acetylgalactosaminidase deficiency | (Orphanet:3137) |
Alpha-N-acetylgalactosaminidase deficiency type 1 | (Orphanet:79279) |
Alpha-N-acetylgalactosaminidase deficiency type 3 | (Orphanet:79281) |
Alpha-mannosidosis | (Orphanet:61) |
Alström syndrome | (Orphanet:64) |
Alternating hemiplegia of childhood | (Orphanet:2131) |
Amaurosis - hypertrichosis | (Orphanet:1021) |
Angelman syndrome | (Orphanet:72) |
Aniridia | (Orphanet:77) |
Aplasia cutis - myopia | (Orphanet:1117) |
Arnold-Chiari malformation type I | (Orphanet:268882) |
Arnold-Chiari malformation type II | (Orphanet:1136) |
Ataxia - pancytopenia | (Orphanet:2585) |
Ataxia - tapetoretinal degeneration | (Orphanet:1178) |
Ataxia with vitamin E deficiency | (Orphanet:96) |
Ataxia-deafness-retardation syndrome | (Orphanet:1188) |
Ataxia-telangiectasia | (Orphanet:100) |
Auriculoocular anomalies - cleft lip | (Orphanet:71270) |
Autosomal dominant cerebellar ataxia | (Orphanet:99) |
Autosomal dominant microcephaly | (Orphanet:2514) |
Autosomal dominant osteosclerosis, Worth type | (Orphanet:2790) |
Autosomal dominant spastic paraplegia type 4 | (Orphanet:100985) |
Autosomal dominant spastic paraplegia type 9 | (Orphanet:100990) |
Autosomal recessive ataxia, Beauce type | (Orphanet:88644) |
Autosomal recessive cerebellar ataxia - psychomotor retardation | (Orphanet:284271) |
Autosomal recessive cerebelloparenchymal disorder type 3 | (Orphanet:1170) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Autosomal recessive limb-girdle muscular dystrophy type 2T | (Orphanet:363623) |
Autosomal recessive malignant osteopetrosis | (Orphanet:667) |
Autosomal recessive nonsyndromic intellectual deficit | (Orphanet:88616) |
Autosomal recessive optic atrophy, OPA6 type | (Orphanet:99012) |
Autosomal recessive spastic ataxia - optic atrophy - dysarthria | (Orphanet:254343) |
Autosomal recessive spastic ataxia of Charlevoix-Saguenay | (Orphanet:98) |
Autosomal recessive spastic paraplegia type 15 | (Orphanet:100996) |
Autosomal recessive spastic paraplegia type 26 | (Orphanet:101006) |
Autosomal recessive spastic paraplegia type 35 | (Orphanet:171629) |
Autosomal recessive spastic paraplegia type 45 | (Orphanet:320396) |
Autosomal recessive spastic paraplegia type 46 | (Orphanet:320391) |
Autosomal recessive spastic paraplegia type 55 | (Orphanet:320375) |
Autosomal recessive spastic paraplegia type 7 | (Orphanet:99013) |
Axial spondylometaphyseal dysplasia | (Orphanet:168549) |
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 4 | (OMIM:615007) |
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME | (OMIM:615722) |
BRANCHIAL MYOCLONUS WITH SPASTIC PARAPARESIS AND CEREBELLAR ATAXIA | (OMIM:113610) |
BROWN-VIALETTO-VAN LAERE SYNDROME 2 | (OMIM:614707) |
Baller-Gerold syndrome | (Orphanet:1225) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 1 | (OMIM:209900 ) |
Bardet-Biedl syndrome 10 | (OMIM:615987) |
Bardet-Biedl syndrome 12 | (OMIM:615989) |
Bardet-Biedl syndrome 13 | (OMIM:615990) |
Bardet-Biedl syndrome 14 | (OMIM:615991) |
Bardet-Biedl syndrome 4 | (OMIM:615982) |
Bardet-Biedl syndrome 7 | (OMIM:615984) |
Bardet-Biedl syndrome 9 | (OMIM:615986) |
Behr syndrome | (Orphanet:1239) |
Benign paroxysmal tonic upgaze of childhood with ataxia | (Orphanet:1179) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Bilateral frontoparietal polymicrogyria | (Orphanet:101070) |
Biotin-responsive basal ganglia disease | (Orphanet:65284) |
Blepharophimosis - epicanthus inversus - ptosis | (Orphanet:126) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blue cone monochromatism | (Orphanet:16) |
Blue diaper syndrome | (Orphanet:94086) |
Borjeson-Forssman-Lehmann syndrome | (Orphanet:127) |
Brachydactyly - nystagmus - cerebellar ataxia | (Orphanet:1246) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CARDIOFACIOCUTANEOUS SYNDROME 3 | (OMIM:615279) |
CARDIOFACIOCUTANEOUS SYNDROME 4 | (OMIM:615280) |
CATARACT 2, MULTIPLE TYPES | (OMIM:604307) |
CATARACT 9, MULTIPLE TYPES | (OMIM:604219) |
CATARACT, CONGENITAL, WITH MENTAL IMPAIRMENT AND DENTATE GYRUS ATROPHY | (OMIM:607674) |
CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURALHEARING LOSS, AND SKELETAL DYSPLASIA | (OMIM:616007) |
CEREBELLAR ATAXIA, AREFLEXIA, PES CAVUS, OPTIC ATROPHY, AND SENSORINEURALHEARING LOSS | (OMIM:601338) |
CEREBROOCULOFACIOSKELETAL SYNDROME 1 | (OMIM:214150) |
CEREBROOCULOFACIOSKELETAL SYNDROME 4 | (OMIM:610758) |
CHARCOT-MARIE-TOOTH PERONEAL MUSCULAR ATROPHY AND FRIEDREICH ATAXIA,COMBINED | (OMIM:302900) |
CHARGE syndrome | (Orphanet:138) |
CLN5 disease | (Orphanet:228360) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
CODAS syndrome | (Orphanet:1458) |
COENZYME Q10 DEFICIENCY, PRIMARY, 1 | (OMIM:607426) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
COFS syndrome | (Orphanet:1466) |
COG4-CDG | (Orphanet:263501) |
CONE DYSTROPHY 4 | (OMIM:613093) |
CONE-ROD DYSTROPHY 20 | (OMIM:615973) |
CONE-ROD DYSTROPHY, X-LINKED, 1 | (OMIM:304020) |
CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 3 | (OMIM:615411) |
Canavan disease | (Orphanet:141) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Cataract - ataxia - deafness | (Orphanet:1368) |
Cataract - intellectual deficit - anal atresia - urinary defects | (Orphanet:1381) |
Cataract - nephropathy - encephalopathy | (Orphanet:1380) |
Cataract-microcornea syndrome | (Orphanet:1377) |
Caudal appendage - deafness | (Orphanet:1123) |
Cenani-Lenz syndrome | (Orphanet:3258) |
Cerebellar ataxia - hypogonadism | (Orphanet:1173) |
Cerebellar ataxia, Cayman type | (Orphanet:94122) |
Cerebellar hypoplasia - tapetoretinal degeneration | (Orphanet:2246) |
Cerebro-reno-digital syndrome | (Orphanet:1396) |
Charcot-Marie-Tooth disease type 4C | (Orphanet:99949) |
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia | (Orphanet:284324) |
Choreoacanthocytosis | (Orphanet:2388) |
Choroideremia - hypopituitarism | (Orphanet:1434) |
Christianson syndrome | (Orphanet:85278) |
Chédiak-Higashi syndrome | (Orphanet:167) |
Cockayne syndrome | (Orphanet:191) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cogan syndrome | (Orphanet:1467) |
Cohen syndrome | (Orphanet:193) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Combined oxidative phosphorylation defect type 4 | (Orphanet:254925) |
Combined oxidative phosphorylation defect type 7 | (Orphanet:254930) |
Congenital cataract-hearing loss-severe developmental delay syndrome | (Orphanet:300313) |
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | (Orphanet:1369) |
Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
Congenital intrauterine infection-like syndrome | (Orphanet:1229) |
Congenital rubella syndrome | (Orphanet:290) |
Congenital toxoplasmosis | (Orphanet:858) |
Corneal dystrophy - perceptive deafness | (Orphanet:1490) |
Cornelia de Lange syndrome | (Orphanet:199) |
Corpus callosum agenesis - neuronopathy | (Orphanet:1496) |
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | (Orphanet:300570) |
Costello syndrome | (Orphanet:3071) |
Cranioectodermal dysplasia | (Orphanet:1515) |
Cranioectodermal dysplasia 1 | (OMIM:218330) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Cystic leukoencephalopathy without megalencephaly | (Orphanet:85136) |
DK1-CDG | (Orphanet:91131) |
DPAGT1-CDG | (Orphanet:86309) |
DPM1-CDG | (Orphanet:79322) |
Dandy-Walker malformation - postaxial polydactyly | (Orphanet:1566) |
Deaf blind hypopigmentation syndrome, Yemenite type | (Orphanet:3214) |
Deafness - onychodystrophy | (Orphanet:3231) |
Dejerine-Sottas syndrome | (Orphanet:64748) |
Dentatorubral pallidoluysian atrophy | (Orphanet:101) |
Desmosterolosis | (Orphanet:35107) |
Diencephalic syndrome | (Orphanet:1672) |
Dihydropyrimidine dehydrogenase deficiency | (Orphanet:1675) |
Distal limb deficiencies - micrognathia syndrome | (Orphanet:1307) |
Distal trisomy 6p | (Orphanet:1745) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Dorfman-Chanarin disease | (Orphanet:98907) |
Duane anomaly - myopathy - scoliosis | (Orphanet:50817) |
Duane retraction syndrome | (Orphanet:233) |
Dubowitz syndrome | (Orphanet:235) |
Dysosteosclerosis | (Orphanet:1782) |
EPILEPSY, PROGRESSIVE MYOCLONIC, 5 | (OMIM:613832) |
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29 | (OMIM:616339) |
EPISODIC ATAXIA, TYPE 8 | (OMIM:616055) |
EXUDATIVE VITREORETINOPATHY 2, X-LINKED | (OMIM:305390) |
Early-onset progressive neurodegeneration - blindness - ataxia - spasticity | (Orphanet:352654) |
Endosteal sclerosis - cerebellar hypoplasia | (Orphanet:85186) |
Erdheim-Chester disease | (Orphanet:35687) |
Ermine phenotype | (Orphanet:999) |
Erythrokeratodermia - ataxia | (Orphanet:1955) |
FOVEAL HYPOPLASIA 2 | (OMIM:609218) |
FRIEDREICH ATAXIA AND CONGENITAL GLAUCOMA | (OMIM:229310) |
Facial dysmorphism - macrocephaly - myopia - Dandy-Walker malformation | (Orphanet:1970) |
Familial amyloid polyneuropathy | (Orphanet:85447) |
Familial encephalopathy with neuroserpin inclusion bodies | (Orphanet:85110) |
Familial generalized lentiginosis | (Orphanet:231040) |
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis | (Orphanet:31043) |
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis - severe ocular involvement | (Orphanet:2196) |
Familial or sporadic hemiplegic migraine | (Orphanet:569) |
Fanconi anemia | (Orphanet:84) |
Farber lipogranulomatosis | (Orphanet:333) |
Fetal iodine syndrome | (Orphanet:1910) |
Focal dermal hypoplasia | (Orphanet:2092) |
Foveal hypoplasia - presenile cataract | (Orphanet:2253) |
Fragile X-associated tremor/ataxia syndrome | (Orphanet:93256) |
Free sialic acid storage disease | (Orphanet:834) |
Free sialic acid storage disease, infantile form | (Orphanet:309324) |
Friedreich ataxia 1 | (OMIM:229300) |
Friedreich ataxia 2 | (OMIM:601992) |
Frontonasal dysplasia with alopecia and genital anomaly | (Orphanet:228390) |
GAPO syndrome | (Orphanet:2067) |
GM1 gangliosidosis | (Orphanet:354) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gaucher disease type 3 | (Orphanet:77261) |
Giant axonal neuropathy | (Orphanet:643) |
Giant cell arteritis | (Orphanet:397) |
Gorlin syndrome | (Orphanet:377) |
Gorlin-Chaudhry-Moss syndrome | (Orphanet:2095) |
Griscelli disease | (Orphanet:381) |
Griscelli disease type 1 | (Orphanet:79476) |
HERMANSKY-PUDLAK SYNDROME 1 | (OMIM:203300) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hartnup syndrome | (Orphanet:2116) |
Hashimoto-Pritzker syndrome | (Orphanet:99872) |
Hepatic fibrosis - renal cysts - intellectual deficit | (Orphanet:2031) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hereditary mucoepithelial dysplasia | (Orphanet:1839) |
Hermansky-Pudlak syndrome | (Orphanet:79430) |
Hermansky-Pudlak syndrome type 7 | (Orphanet:231531) |
Hermansky-Pudlak syndrome type 9 | (Orphanet:280663) |
Hermansky-Pudlak syndrome with neutropenia | (Orphanet:183678) |
Hermansky-Pudlak syndrome with pulmonary fibrosis | (Orphanet:231500) |
Hermansky-Pudlak syndrome without pulmonary fibrosis | (Orphanet:231512) |
Homocystinuria without methylmalonic aciduria | (Orphanet:622) |
Horizontal gaze palsy with progressive scoliosis | (Orphanet:2744) |
Hydrocephalus with stenosis of aqueduct of Sylvius | (Orphanet:2182) |
Hyperornithinemia-hyperammonemia-homocitrullinuria | (Orphanet:415) |
Hypomyelination with atrophy of basal ganglia and cerebellum | (Orphanet:139441) |
Hypomyelination with brain stem and spinal cord involvement and leg spasticity | (Orphanet:363412) |
Hypoparathyroidism - deafness - renal disease | (Orphanet:2237) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
Hypotrichosis with juvenile macular degeneration | (Orphanet:1573) |
Ichthyosis follicularis - alopecia - photophobia | (Orphanet:2273) |
Infantile Refsum disease | (Orphanet:772) |
Infantile axonal neuropathy | (Orphanet:2679) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Infantile onset spinocerebellar ataxia | (Orphanet:1186) |
Intellectual deficit - hypoplastic corpus callosum - preauricular tag | (Orphanet:1495) |
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
Intellectual deficit, X-linked - short stature - obesity | (Orphanet:3055) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome | (Orphanet:369837) |
Isolated Dandy-Walker malformation | (Orphanet:217) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated aniridia | (Orphanet:250923) |
Isolated succinate-CoQ reductase deficiency | (Orphanet:3208) |
Ito hypomelanosis | (Orphanet:435) |
Jalili syndrome | (Orphanet:1873) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 14 | (OMIM:614424) |
Joubert syndrome 2 | (OMIM:608091) |
Joubert syndrome 21 | (OMIM:615636) |
Joubert syndrome 3 | (OMIM:608629) |
Joubert syndrome 4 | (OMIM:609583) |
Joubert syndrome 5 | (OMIM:610188) |
Joubert syndrome 7 | (OMIM:611560) |
Joubert syndrome 9 | (OMIM:612285) |
Joubert syndrome with hepatic defect | (Orphanet:1454) |
Joubert syndrome with ocular defect | (Orphanet:220493) |
Joubert syndrome with oculorenal defect | (Orphanet:2318) |
Joubert syndrome with orofaciodigital defect | (Orphanet:2754) |
Joubert syndrome with renal defect | (Orphanet:220497) |
KRABBE DISEASE | (OMIM:245200) |
Kabuki syndrome | (Orphanet:2322) |
Kallmann syndrome | (Orphanet:478) |
Karsch-Neugebauer syndrome | (Orphanet:2329) |
Knobloch syndrome | (Orphanet:1571) |
Krabbe disease | (Orphanet:487) |
L-2-hydroxyglutaric aciduria | (Orphanet:79314) |
LAMB-2-related infantile-onset nephrotic syndrome | (Orphanet:306507) |
LARYNGEAL ABDUCTOR PARALYSIS WITH CEREBELLAR ATAXIA AND MOTOR NEUROPATHY | (OMIM:606183) |
LENTIGINES | (OMIM:150900) |
LEUKODYSTROPHY, HYPOMYELINATING, 9 | (OMIM:616140) |
LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE | (OMIM:615889) |
LICHTENSTEIN-KNORR SYNDROME | (OMIM:616291) |
Laryngeal abductor paralysis - intellectual deficit | (Orphanet:2375) |
Laurence-Moon syndrome | (Orphanet:2377) |
Leber congenital amaurosis | (Orphanet:65) |
Leber congenital amaurosis 1 | (OMIM:204000) |
Leber congenital amaurosis 10 | (OMIM:611755) |
Leber congenital amaurosis 11 | (OMIM:613837) |
Leber congenital amaurosis 12 | (OMIM:610612) |
Leber congenital amaurosis 14 | (OMIM:613341) |
Leber congenital amaurosis 15 | (OMIM:613843) |
Leber congenital amaurosis 16 | (OMIM:614186) |
Leber congenital amaurosis 3 | (OMIM:604232) |
Leber congenital amaurosis 5 | (OMIM:604537) |
Leber congenital amaurosis 9 | (OMIM:608553) |
Leigh syndrome | (Orphanet:506) |
Lethal ataxia with deafness and optic atrophy | (Orphanet:1187) |
Leukoencephalopathy - ataxia - hypodontia - hypomyelination | (Orphanet:137639) |
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation | (Orphanet:137898) |
Lissencephaly type 1 due to doublecortin gene mutation | (Orphanet:2148) |
Lowry-Wood syndrome | (Orphanet:1824) |
MEHMO syndrome | (Orphanet:85282) |
MELAS | (Orphanet:550) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 | (OMIM:616158) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 9 | (OMIM:614255) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 | (OMIM:249500) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 | (OMIM:615599) |
MESANGIAL SCLEROSIS, DIFFUSE RENAL, WITH OCULAR ABNORMALITIES | (OMIM:249660) |
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 | (OMIM:616335) |
MICROPHTHALMIA, ISOLATED, WITH CATARACT 1 | (OMIM:156850) |
MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 | (OMIM:613703) |
MIGRAINE, FAMILIAL HEMIPLEGIC, 1 | (OMIM:141500) |
MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 2 | (OMIM:615157) |
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 4 | (OMIM:615228) |
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY | (OMIM:616277) |
MOMO syndrome | (Orphanet:2563) |
MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 1 | (OMIM:257300) |
MOVED TO 302200 | (OMIM:315000) |
MPDU1-CDG | (Orphanet:79323) |
MRCS syndrome | (Orphanet:263347) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 | (OMIM:615351) |
Macular coloboma - cleft palate - hallux valgus | (Orphanet:91494) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Marshall syndrome | (Orphanet:560) |
Megalocornea-intellectual deficit syndrome | (Orphanet:2479) |
Melkersson-Rosenthal syndrome | (Orphanet:2483) |
Metachromatic leukodystrophy | (Orphanet:512) |
Methylcobalamin deficiency type cblDv1 | (Orphanet:308380) |
Methylcobalamin deficiency type cblE | (Orphanet:2169) |
Methylcobalamin deficiency type cblG | (Orphanet:2170) |
Methylmalonic acidemia with homocystinuria, type cblC | (Orphanet:79282) |
Methylmalonic acidemia with homocystinuria, type cblD | (Orphanet:79283) |
Mevalonic aciduria | (Orphanet:29) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microphthalmia - cataract | (Orphanet:2543) |
Microphthalmia with brain and digit anomalies | (Orphanet:139471) |
Microphthalmia, Lenz type | (Orphanet:568) |
Mietens syndrome | (Orphanet:2557) |
Minimal pigment oculocutaneous albinism type 1 | (Orphanet:352734) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies | (Orphanet:369897) |
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency | (Orphanet:279934) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 9p | (Orphanet:261112) |
Morning glory syndrome | (Orphanet:35737) |
Mosaic variegated aneuploidy syndrome | (Orphanet:1052) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mucolipidosis type 4 | (Orphanet:578) |
Multiple congenital anomalies - hypotonia - seizures syndrome | (Orphanet:280633) |
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 | (OMIM:613561) |
NARP syndrome | (Orphanet:644) |
NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2B | (OMIM:610217) |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1C | (OMIM:613216) |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E | (OMIM:614565) |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B | (OMIM:610427) |
NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT | (OMIM:193003) |
NYSTAGMUS 5, CONGENITAL, X-LINKED | (OMIM:300589) |
NYSTAGMUS, MYOCLONIC | (OMIM:310800) |
NYSTAGMUS, VOLUNTARY | (OMIM:164170) |
Nance-Horan syndrome | (Orphanet:627) |
Nasopalpebral lipoma - coloboma - telecanthus | (Orphanet:2399) |
Navajo neurohepatopathy | (Orphanet:255229) |
Necrotizing encephalomyelopathy, subacute, of Leigh, adult | (OMIM:161700) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Nephronophthisis 15 | (OMIM:614845) |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | (Orphanet:88639) |
Neuroectodermal melanolysosomal disease | (Orphanet:33445) |
Neurologic Waardenburg-Shah syndrome | (Orphanet:163746) |
Neuronal intranuclear inclusion disease | (Orphanet:2289) |
Neutral lipid storage disease | (Orphanet:165) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Noonan syndrome | (Orphanet:648) |
Norrie disease | (Orphanet:649) |
OPHTHALMOPLEGIA, FAMILIAL STATIC | (OMIM:165000) |
OPTIC DISC ANOMALIES WITH RETINAL AND/OR MACULAR DYSTROPHY | (OMIM:212550) |
OROFACIODIGITAL SYNDROME VI | (OMIM:277170) |
OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 | (OMIM:259700) |
Ocular albinism | (Orphanet:284804) |
Ocular albinism with congenital sensorineural deafness | (Orphanet:352740) |
Ocular albinism with late-onset sensorineural deafness | (Orphanet:1000) |
Oculoauricular syndrome, Schorderet type | (Orphanet:157962) |
Oculocerebral hypopigmentation syndrome, Cross type | (Orphanet:2719) |
Oculocerebral hypopigmentation syndrome, Preus type | (Orphanet:2720) |
Oculocerebrocutaneous syndrome | (Orphanet:1647) |
Oculocerebrofacial syndrome, Kaufman type | (Orphanet:2707) |
Oculocerebrorenal syndrome | (Orphanet:534) |
Oculocutaneous albinism | (Orphanet:55) |
Oculocutaneous albinism type 1 | (Orphanet:352731) |
Oculocutaneous albinism type 1A | (Orphanet:79431) |
Oculocutaneous albinism type 1B | (Orphanet:79434) |
Oculocutaneous albinism type 2 | (Orphanet:79432) |
Oculocutaneous albinism type 3 | (Orphanet:79433) |
Oculocutaneous albinism type 4 | (Orphanet:79435) |
Oculocutaneous albinism type 5 | (Orphanet:370091) |
Oculocutaneous albinism type 6 | (Orphanet:370097) |
Oculocutaneous albinism type 7 | (Orphanet:352745) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Oculoosteocutaneous syndrome | (Orphanet:2713) |
Odontoleukodystrophy | (Orphanet:77295) |
Olivopontocerebellar atrophy - deafness | (Orphanet:2732) |
Orofaciodigital syndrome type 8 | (Orphanet:2755) |
Osteopetrosis | (Orphanet:2781) |
Osteopetrosis - hypogammaglobulinemia | (Orphanet:178389) |
PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATIONSYNDROME | (OMIM:606721) |
PELIZAEUS-MERZBACHER DISEASE | (OMIM:312080) |
PEROXISOME BIOGENESIS DISORDER 1A (ZELLWEGER) | (OMIM:214100) |
PEROXISOME BIOGENESIS DISORDER 5B | (OMIM:614867) |
PEROXISOME BIOGENESIS DISORDER 6B | (OMIM:614871) |
PMM2-CDG | (Orphanet:79318) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 10 | (OMIM:615803) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | (OMIM:614678) |
PORETTI-BOLTSHAUSER SYNDROME | (OMIM:615960) |
Paraplegia - intellectual deficit - hyperkeratosis | (Orphanet:2824) |
Pelizaeus-Merzbacher disease | (Orphanet:702) |
Pelizaeus-Merzbacher-like due to HSPD1 mutation | (Orphanet:280288) |
Pellagra-like skin rash-neurological manifestations | (Orphanet:2837) |
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis | (Orphanet:65288) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Perrault Syndrome | (Orphanet:2855) |
Perrault Syndrome 1 | (OMIM:233400) |
Perrault Syndrome 5 | (OMIM:616138) |
Peters anomaly | (Orphanet:708) |
Peters-plus syndrome | (Orphanet:709) |
Pierson syndrome | (Orphanet:2670) |
Polyarteritis nodosa, childhood-onset | (OMIM:615688) |
Polyneuropathy - hearing loss - ataxia - retinitis pigmentosa - cataract | (Orphanet:171848) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Pontocerebellar hypoplasia type 8 | (Orphanet:324569) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Primary cutis verticis gyrata | (Orphanet:671) |
Progressive bifocal chorioretinal atrophy | (Orphanet:75373) |
Pseudohypoparathyroidism type 1A | (Orphanet:79443) |
Pseudohypoparathyroidism type 1C | (Orphanet:79444) |
Pseudopseudohypoparathyroidism | (Orphanet:79445) |
Pyruvate dehydrogenase E2 deficiency | (Orphanet:79244) |
Pyruvate dehydrogenase deficiency | (Orphanet:765) |
Pyruvate dehydrogenase phosphatase deficiency | (Orphanet:79246) |
RED SKIN PIGMENT ANOMALY OF NEW GUINEA | (OMIM:266350) |
RETINAL CONE DYSTROPHY 3A | (OMIM:610024) |
Refsum disease | (Orphanet:773) |
Renal coloboma syndrome | (Orphanet:1475) |
Retinal degeneration - nanophthalmos - glaucoma | (Orphanet:1574) |
Retinitis pigmentosa | (Orphanet:791) |
Retinitis pigmentosa - intellectual deficit - deafness - hypogenitalism | (Orphanet:3085) |
Retinopathy - anemia- central nervous system anomalies | (Orphanet:3088) |
Richards-Rundle syndrome | (Orphanet:1399) |
Roberts syndrome | (Orphanet:3103) |
SCLEROSTEOSIS 1 | (OMIM:269500) |
SLC35A2-CDG | (Orphanet:356961) |
SOTOS SYNDROME 1 | (OMIM:117550) |
SPASTIC PARAPLEGIA 51, AUTOSOMAL RECESSIVE | (OMIM:613744) |
SPINOCEREBELLAR ATAXIA 37 | (OMIM:615945) |
SPINOCEREBELLAR ATAXIA 38 | (OMIM:615957) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 15 | (OMIM:615705) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 | (OMIM:615768) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 18 | (OMIM:616204) |
SRD5A3-CDG | (Orphanet:324737) |
Saldino-Mainzer syndrome | (Orphanet:140969) |
Salla disease | (Orphanet:309334) |
Sclerosteosis | (Orphanet:3152) |
Senior-Boichis syndrome | (Orphanet:84081) |
Senior-Loken syndrome 3 | (OMIM:606995) |
Senior-Loken syndrome 5 | (OMIM:609254) |
Senior-Loken syndrome 8 | (OMIM:616307) |
Senior-Loken syndrome 9 | (OMIM:616629) |
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis | (Orphanet:70595) |
Septo-optic dysplasia | (Orphanet:3157) |
Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency | (Orphanet:35123) |
Short stature - intellectual deficit - eye anomalies - cleft lip/palate | (Orphanet:2649) |
Sialidosis type 1 | (Orphanet:812) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Sotos syndrome | (Orphanet:821) |
Spasmus nutans | (Orphanet:279882) |
Spastic ataxia with congenital miosis | (Orphanet:1182) |
Spastic paraparesis - deafness | (Orphanet:2815) |
Spastic paraplegia type 2 | (Orphanet:99015) |
Spectrin-associated autosomal recessive cerebellar ataxia | (Orphanet:352403) |
Spinocerebellar ataxia - dysmorphism | (Orphanet:1185) |
Spinocerebellar ataxia type 10 | (Orphanet:98761) |
Spinocerebellar ataxia type 11 | (Orphanet:98767) |
Spinocerebellar ataxia type 13 | (Orphanet:98768) |
Spinocerebellar ataxia type 14 | (Orphanet:98763) |
Spinocerebellar ataxia type 18 | (Orphanet:98771) |
Spinocerebellar ataxia type 20 | (Orphanet:101110) |
Spinocerebellar ataxia type 21 | (Orphanet:98773) |
Spinocerebellar ataxia type 25 | (Orphanet:101111) |
Spinocerebellar ataxia type 26 | (Orphanet:101112) |
Spinocerebellar ataxia type 29 | (Orphanet:208513) |
Spinocerebellar ataxia type 31 | (Orphanet:217012) |
Spinocerebellar ataxia type 7 | (Orphanet:94147) |
Spinocerebellar ataxia type 8 | (Orphanet:98760) |
Spinocerebellar ataxia with axonal neuropathy type 2 | (Orphanet:64753) |
Spinocerebellar ataxia with epilepsy | (Orphanet:254881) |
Spondylo-ocular syndrome | (Orphanet:85194) |
Spondyloepimetaphyseal dysplasia, Geneviève type | (Orphanet:168454) |
Spondyloepiphyseal dysplasia congenita | (Orphanet:94068) |
Spondylometaphyseal dysplasia - cone-rod dystrophy | (Orphanet:85167) |
Spondylometaphyseal dysplasia, Golden type | (Orphanet:168544) |
Sporadic Leigh syndrome | (Orphanet:255199) |
Subaortic stenosis - short stature | (Orphanet:3191) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A | (Orphanet:308386) |
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B | (Orphanet:308393) |
Syngnathia multiple anomalies | (Orphanet:3262) |
Syringomyelia | (Orphanet:3280) |
TERATOMA, PINEAL | (OMIM:273120) |
TRICHOTHIODYSTROPHY, NONPHOTOSENSITIVE 1 | (OMIM:234050) |
Temperature-sensitive oculocutaneous albinism type 1 | (Orphanet:352737) |
Thiamine-responsive encephalopathy | (Orphanet:199348) |
Thiamine-responsive megaloblastic anemia syndrome | (Orphanet:49827) |
Tremor - nystagmus - duodenal ulcer | (Orphanet:3350) |
Trichodermal syndrome - intellectual deficit | (Orphanet:3360) |
Trichomegaly - retina pigmentary degeneration - dwarfism | (Orphanet:3363) |
Tyrosinemia type 2 | (Orphanet:28378) |
Urocanic aciduria | (Orphanet:210128) |
Usher syndrome | (Orphanet:886) |
Usher syndrome type 2 | (Orphanet:231178) |
Uveal coloboma - cleft lip and palate - intellectual deficit | (Orphanet:1473) |
Van den Bosch syndrome | (Orphanet:3417) |
Vici syndrome | (Orphanet:1493) |
Vitamin B12-responsive methylmalonic acidemia, type cblDv2 | (Orphanet:308442) |
Von Hippel-Lindau disease | (Orphanet:892) |
WAARDENBURG SYNDROME, TYPE 2E | (OMIM:611584) |
WAGR syndrome | (Orphanet:893) |
WARBURG MICRO SYNDROME 3 | (OMIM:614222) |
Waardenburg-Shah syndrome | (Orphanet:897) |
Wiedemann-Rautenstrauch syndrome | (Orphanet:3455) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wolfram syndrome | (Orphanet:3463) |
Wolfram syndrome 1 | (OMIM:222300) |
Wolfram syndrome, mitochondrial form | (OMIM:598500) |
X-linked Charcot-Marie-Tooth disease type 1 | (Orphanet:101075) |
X-linked dominant chondrodysplasia punctata | (Orphanet:35173) |
X-linked immunoneurologic disorder | (Orphanet:2571) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
X-linked non progressive cerebellar ataxia | (Orphanet:314978) |
X-linked progressive cerebellar ataxia | (Orphanet:1175) |
X-linked recessive ocular albinism | (Orphanet:54) |
X-linked retinal dysplasia | (Orphanet:1852) |
X-linked sideroblastic anemia - ataxia | (Orphanet:2802) |
Xeroderma pigmentosum complementation group F | (Orphanet:276264) |
Yunis-Varon syndrome | (Orphanet:3472) |
Zellweger syndrome | (Orphanet:912) |
[DEL] LEIGH SYNDROME, X-LINKED | (OMIM:308930) |
[DEL] SENGERS SYNDROME | (OMIM:212350) |
[DEL] SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE | (OMIM:607259) |
Åland Islands eye disease | (Orphanet:178333) |