Nystagmus

Symptom Information:

Symptom ID: HPO:0000639
Synonyms:
Nystagmus (disorder) [Orphanet:5900]
NYSTAGMUS [HPO:0000639]
Nystagmus [Orphanet:5900]
Nystagmus [OMIM:Nystagmus]
Nystagmus [MedDRA:10029864]
Dissociated nystagmus [MedDRA:10029864]
Latent nystagmus [MedDRA:10029864]
Nystagmus and other irregular eye movements [MedDRA:10029864]
Nystagmus associated with disorders of the vestibular system [MedDRA:10029864]
Nystagmus NOS [MedDRA:10029864]
Nystagmus, unspecified [MedDRA:10029864]
Other forms of nystagmus [MedDRA:10029864]
Visual deprivation nystagmus [MedDRA:10029864]
Spasmus nutans [MedDRA:10029864]
No nystagmus [OMIM:No nystagmus]
Nystagmus (1 patient) [OMIM:Nystagmus (1 patient)]
Nystagmus (females) [OMIM:Nystagmus (females)]
Nystagmus (in 1 patient) [OMIM:Nystagmus (in 1 patient)]
Nystagmus (in 2 of 5 patients) [OMIM:Nystagmus (in 2 of 5 patients)]
Nystagmus (in some patients) [OMIM:Nystagmus (in some patients)]
Nystagmus (infancy) [OMIM:Nystagmus (infancy)]
Nystagmus (may be permanent in 50% of patients) [OMIM:Nystagmus (may be permanent in 50% of patients)]
Nystagmus (rare) [OMIM:Nystagmus (rare)]
Nystagmus (reported in 1 patient) [OMIM:Nystagmus (reported in 1 patient)]
Nystagmus (type I) [OMIM:Nystagmus (type I)]
Nystagmus (uncommon) [OMIM:Nystagmus (uncommon)]
Quality:
Cross references:
Orphanet:5900 "Nystagmus" [Orphanet:5900]
OMIM: "Nystagmus" [OMIM:Nystagmus]
OMIM: "No nystagmus" [OMIM:No nystagmus]
OMIM: "Nystagmus (1 patient)" [OMIM:Nystagmus (1 patient)]
OMIM: "Nystagmus (females)" [OMIM:Nystagmus (females)]
OMIM: "Nystagmus (in 1 patient)" [OMIM:Nystagmus (in 1 patient)]
OMIM: "Nystagmus (in 2 of 5 patients)" [OMIM:Nystagmus (in 2 of 5 patients)]
OMIM: "Nystagmus (in some patients)" [OMIM:Nystagmus (in some patients)]
OMIM: "Nystagmus (infancy)" [OMIM:Nystagmus (infancy)]
OMIM: "Nystagmus (may be permanent in 50% of patients)" [OMIM:Nystagmus (may be permanent in 50% of patients)]
OMIM: "Nystagmus (rare)" [OMIM:Nystagmus (rare)]
OMIM: "Nystagmus (reported in 1 patient)" [OMIM:Nystagmus (reported in 1 patient)]
OMIM: "Nystagmus (type I)" [OMIM:Nystagmus (type I)]
OMIM: "Nystagmus (uncommon)" [OMIM:Nystagmus (uncommon)]
UMLS:C1963184 "NYSTAGMUS" [HPO:0000639]
UMLS:C0028738 "Nystagmus" [Orphanet:5900]
Is a (Direct Parents):
HPO         Divergence nystagmus
HPO         Abnormal involuntary eye movements
MedDRA Coordination and balance disturbances
Orphanet Abnormality of eye movement
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)