Strabismus
Symptom Information:
Symptom ID: | HPO:0000486 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Synonyms: |
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Cross references: |
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Is a (Direct Parents): |
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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 conjugate eye movement(HPO:0000549) Strabismus(HPO:0000486) MedDRA: Eye disorders(MedDRA:10015919) Ocular neuromuscular disorders(MedDRA:10030061) Ocular nerve and muscle disorders(MedDRA:10030059) Strabismus(HPO:0000486) |
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Database Frequency: | 576 / 7739 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Resource: |
All diseases associated with this symptom:
10q22.3q23.3 microduplication syndrome | (Orphanet:276422) |
15q13.3 microdeletion syndrome | (Orphanet:199318) |
15q24 microdeletion syndrome | (Orphanet:94065) |
16p11.2p12.2 microdeletion syndrome | (Orphanet:261211) |
16q24.3 microdeletion syndrome | (Orphanet:261250) |
17q11.2 microduplication syndrome | (Orphanet:139474) |
17q23.1q23.2 microdeletion syndrome | (Orphanet:261279) |
19p13.12 microdeletion syndrome | (Orphanet:254346) |
1p36 deletion syndrome | (Orphanet:1606) |
1q21.1 microdeletion syndrome | (Orphanet:250989) |
1q21.1 microduplication syndrome | (Orphanet:250994) |
1q44 microdeletion syndrome | (Orphanet:238769) |
2-methylbutyryl-CoA dehydrogenase deficiency | (Orphanet:79157) |
22q11.2 deletion syndrome | (Orphanet:567) |
2p15p16.1 microdeletion syndrome | (Orphanet:261349) |
2q31.1 microdeletion syndrome | (Orphanet:251014) |
2q32q33 microdeletion syndrome | (Orphanet:251019) |
3-methylglutaconic aciduria type 3 | (Orphanet:67047) |
3MC SYNDROME 2 | (OMIM:265050) |
3q13 microdeletion syndrome | (Orphanet:1621) |
48,XXXY syndrome | (Orphanet:96263) |
48,XXYY syndrome | (Orphanet:10) |
49,XXXXY syndrome | (Orphanet:96264) |
4q21 microdeletion syndrome | (Orphanet:238750) |
5p13 microduplication syndrome | (Orphanet:329802) |
5q14.3 microdeletion syndrome | (Orphanet:228384) |
6p22 microdeletion syndrome | (Orphanet:251046) |
6q16 deletion syndrome | (Orphanet:171829) |
8q12 microduplication syndrome | (Orphanet:228399) |
8q21.11 microdeletion syndrome | (Orphanet:284160) |
AARSKOG SYNDROME, AUTOSOMAL DOMINANT | (OMIM:100050) |
AARSKOG-SCOTT SYNDROME | (OMIM:305400) |
ABDUCENS PALSY | (OMIM:100200) |
ACRODYSOSTOSIS 1 WITH OR WITHOUT HORMONE RESISTANCE | (OMIM:101800) |
ADAMS-OLIVER SYNDROME 2 | (OMIM:614219) |
AICARDI-GOUTIERES SYNDROME 1 | (OMIM:225750) |
ALACRIMA, ACHALASIA, AND MENTAL RETARDATION SYNDROME | (OMIM:615510) |
ALDH18A1-related De Barsy syndrome | (Orphanet:35664) |
ALG11-CDG | (Orphanet:280071) |
ALG3-CDG | (Orphanet:79321) |
ALG6-CDG | (Orphanet:79320) |
ARTHROGRYPOSIS, DISTAL, TYPE 2A | (OMIM:193700) |
AXENFELD-RIEGER ANOMALY WITH PARTIALLY ABSENT EYE MUSCLES, DISTINCTIVEFACE, HYDROCEPHALY, AND SKELETAL ABNORMALITIES | (OMIM:109120) |
AXENFELD-RIEGER SYNDROME, TYPE 1 | (OMIM:180500) |
Aarskog-Scott syndrome | (Orphanet:915) |
Aase-Smith syndrome | (Orphanet:916) |
Acro-renal-ocular syndrome | (Orphanet:959) |
Acrocallosal syndrome | (Orphanet:36) |
Acrodysostosis with multiple hormone resistance | (Orphanet:280651) |
Adams-Oliver syndrome | (Orphanet:974) |
Adenylosuccinate lyase deficiency | (Orphanet:46) |
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency | (Orphanet:329314) |
Alagille syndrome | (Orphanet:52) |
Alagille syndrome due to 20p12 microdeletion | (Orphanet:261600) |
Alagille syndrome due to a JAG1 point mutation | (Orphanet:261619) |
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) |
Alport syndrome - intellectual deficit - midface hypoplasia - elliptocytosis | (Orphanet:86818) |
Alström syndrome | (Orphanet:64) |
Angelman syndrome | (Orphanet:72) |
Aniridia | (Orphanet:77) |
Aniridia - renal agenesis - psychomotor retardation | (Orphanet:1064) |
Antley-Bixler syndrome | (Orphanet:83) |
Apert syndrome | (Orphanet:87) |
Arachnodactyly - abnormal ossification - intellectual deficit | (Orphanet:1129) |
Arachnodactyly - intellectual deficit - dysmorphism | (Orphanet:1130) |
Arterial tortuosity syndrome | (Orphanet:3342) |
Arthrogryposis with oculomotor limitation and electroretinal anomalies | (Orphanet:1154) |
Ataxia - photosensitivity - short stature | (Orphanet:1184) |
Ataxia-deafness-retardation syndrome | (Orphanet:1188) |
Ataxia-telangiectasia | (Orphanet:100) |
Atrioventricular defect - blepharophimosis -radial defects | (Orphanet:1352) |
Autosomal dominant Opitz G/BBB syndrome | (Orphanet:306588) |
Autosomal dominant Robinow syndrome | (Orphanet:3107) |
Autosomal dominant microcephaly | (Orphanet:2514) |
Autosomal dominant optic atrophy and congenital deafness | (Orphanet:3212) |
Autosomal dominant optic atrophy plus syndrome | (Orphanet:1215) |
Autosomal dominant optic atrophy, classic type | (Orphanet:98673) |
Autosomal recessive Robinow syndrome | (Orphanet:1507) |
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome | (Orphanet:363429) |
Autosomal recessive chorioretinopathy-microcephaly | (Orphanet:2518) |
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency | (Orphanet:324262) |
Autosomal recessive cutis laxa type 2 | (Orphanet:90350) |
Autosomal recessive cutis laxa type 2, classic type | (Orphanet:357074) |
Autosomal recessive cutis laxa type 2A | (Orphanet:357058) |
Autosomal recessive limb-girdle muscular dystrophy type 2S | (Orphanet:369840) |
Autosomal recessive multiple pterygium syndrome | (Orphanet:2990) |
Autosomal recessive nonsyndromic intellectual deficit | (Orphanet:88616) |
Autosomal recessive optic atrophy, OPA7 type | (Orphanet:227976) |
Autosomal recessive spastic paraplegia type 18 | (Orphanet:209951) |
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 54 | (Orphanet:320380) |
Autosomal recessive spastic paraplegia type 55 | (Orphanet:320375) |
Axenfeld-Rieger syndrome | (Orphanet:782) |
BOSCH-BOONSTRA-SCHAAF OPTIC ATROPHY SYNDROME | (OMIM:615722) |
Baller-Gerold syndrome | (Orphanet:1225) |
Bannayan-Riley-Ruvalcaba syndrome | (Orphanet:109) |
Bardet-Biedl syndrome | (Orphanet:110) |
Bardet-Biedl syndrome 2 | (OMIM:615981) |
Bardet-Biedl syndrome 4 | (OMIM:615982) |
Bardet-Biedl syndrome 7 | (OMIM:615984) |
Bardet-Biedl syndrome 9 | (OMIM:615986) |
Beckwith-Wiedemann syndrome due to CDKN1C mutation | (Orphanet:231120) |
Behr syndrome | (Orphanet:1239) |
Bencze syndrome | (Orphanet:1241) |
Bifunctional enzyme deficiency | (Orphanet:300) |
Bilateral frontoparietal polymicrogyria | (Orphanet:101070) |
Blackfan-Diamond anemia | (Orphanet:124) |
Blepharophimosis - epicanthus inversus - ptosis | (Orphanet:126) |
Blepharophimosis - ptosis - esotropia - syndactyly - short stature | (Orphanet:2057) |
Blepharophimosis - radioulnar synostosis | (Orphanet:1256) |
Blepharophimosis-intellectual deficit syndrome due to UBE3B deficiency | (Orphanet:329255) |
Blepharophimosis-intellectual deficit syndrome, Ohdo type | (Orphanet:2728) |
Blue diaper syndrome | (Orphanet:94086) |
Bohring-Opitz syndrome | (Orphanet:97297) |
Brachydactyly - nystagmus - cerebellar ataxia | (Orphanet:1246) |
Brachymorphism - onychodysplasia - dysphalangism | (Orphanet:1292) |
Branchio-oculo-facial syndrome | (Orphanet:1297) |
Branchiogenic deafness syndrome | (Orphanet:50815) |
Buschke-Ollendorff syndrome | (Orphanet:1306) |
C syndrome | (Orphanet:1308) |
CADDS | (Orphanet:369942) |
CARDIOFACIOCUTANEOUS SYNDROME 1 | (OMIM:115150) |
CARDIOFACIOCUTANEOUS SYNDROME 4 | (OMIM:615280) |
CATARACT 9, MULTIPLE TYPES | (OMIM:604219) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME1 | (OMIM:224050) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME2 | (OMIM:610185) |
CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME3 | (OMIM:613227) |
CHARGE syndrome | (Orphanet:138) |
CHOROID PLEXUS CALCIFICATION AND MENTAL RETARDATION | (OMIM:215480) |
CHROMOSOME 17p13.1 DELETION SYNDROME | (OMIM:613776) |
CK syndrome | (Orphanet:251383) |
COCKAYNE SYNDROME A | (OMIM:216400) |
COCKAYNE SYNDROME B | (OMIM:133540) |
CODAS syndrome | (Orphanet:1458) |
COFFIN-SIRIS SYNDROME | (OMIM:135900) |
COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA | (OMIM:614306) |
CRANIOSYNOSTOSIS-MENTAL RETARDATION SYNDROME OF LIN AND GETTIG | (OMIM:218649) |
CYCLIC VOMITING SYNDROME | (OMIM:500007) |
Camptodactyly - joint contractures - facial skeletal defects | (Orphanet:1323) |
Cardiofaciocutaneous syndrome | (Orphanet:1340) |
Carpenter-Waziri syndrome | (Orphanet:93973) |
Cartilage-hair hypoplasia | (Orphanet:175) |
Cataract - intellectual deficit - anal atresia - urinary defects | (Orphanet:1381) |
Cavernous hemangiomas of face - supraumbilical midline raphe | (Orphanet:2124) |
Cerebro-facio-thoracic dysplasia | (Orphanet:1394) |
Cerebro-reno-digital syndrome | (Orphanet:1396) |
Char syndrome | (Orphanet:46627) |
Charcot-Marie-Tooth disease type 4B3 | (Orphanet:363981) |
Chondrodysplasia - disorder of sex development | (Orphanet:1422) |
Choroideremia - deafness - obesity | (Orphanet:1435) |
Christianson syndrome | (Orphanet:85278) |
Chudley-Lowry-Hoar syndrome | (Orphanet:93971) |
Chédiak-Higashi syndrome | (Orphanet:167) |
Classical phenylketonuria | (Orphanet:79254) |
Coats disease | (Orphanet:190) |
Cockayne syndrome | (Orphanet:191) |
Coffin-Siris syndrome | (Orphanet:1465) |
Cohen syndrome | (Orphanet:193) |
Combined oxidative phosphorylation defect type 15 | (Orphanet:319524) |
Cone dystrophy with supernormal rod response | (Orphanet:209932) |
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | (Orphanet:1369) |
Congenital cataracts - facial dysmorphism - neuropathy | (Orphanet:48431) |
Congenital disorder of glycosylation | (Orphanet:137) |
Congenital lactic acidosis, Saguenay-Lac-St. Jean type | (Orphanet:70472) |
Congenital muscular dystrophy - infantile cataract - hypogonadism | (Orphanet:1875) |
Congenital muscular dystrophy with intellectual disability and severe epilepsy | (Orphanet:329178) |
Congenital rubella syndrome | (Orphanet:290) |
Congenital stromal corneal dystrophy | (Orphanet:101068) |
Cooper-Jabs syndrome | (Orphanet:1488) |
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) |
Craniofacial dyssynostosis | (Orphanet:1516) |
Craniofrontonasal dysplasia | (Orphanet:1520) |
Craniolenticulosutural dysplasia | (Orphanet:50814) |
Craniosynostosis - Dandy-Walker malformation - hydrocephalus | (Orphanet:1538) |
Craniosynostosis - fibular aplasia | (Orphanet:1533) |
Crossed polysyndactyly | (Orphanet:2935) |
Crouzon disease | (Orphanet:207) |
Crouzon syndrome - acanthosis nigricans | (Orphanet:93262) |
Cryptorchidism - arachnodactyly - intellectual deficit | (Orphanet:1548) |
Cyprus facial-neuromusculoskeletal syndrome | (Orphanet:2674) |
Cystoid macular dystrophy | (Orphanet:75381) |
DDOST-CDG | (Orphanet:300536) |
DIAMOND-BLACKFAN ANEMIA 1 | (OMIM:105650) |
DIGEORGE SYNDROME | (OMIM:188400) |
DK1-CDG | (Orphanet:91131) |
DPAGT1-CDG | (Orphanet:86309) |
DPM1-CDG | (Orphanet:79322) |
DUANE RETRACTION SYNDROME 2 | (OMIM:604356) |
De Barsy syndrome | (Orphanet:2962) |
Deaf blind hypopigmentation syndrome, Yemenite type | (Orphanet:3214) |
Deafness - onychodystrophy | (Orphanet:3231) |
Deafness with labyrinthine aplasia, microtia, and microdontia | (Orphanet:90024) |
Delayed speech - facial asymmetry - strabismus - ear lobe creases | (Orphanet:3038) |
Desmosterolosis | (Orphanet:35107) |
Developmental delay with autism spectrum disorder and gait instability | (Orphanet:329195) |
Distal 22q11.2 microduplication syndrome | (Orphanet:261337) |
Distal monosomy 10p | (Orphanet:1580) |
Distal monosomy 10q | (Orphanet:96148) |
Distal monosomy 15q | (Orphanet:1596) |
Distal monosomy 6p | (Orphanet:96125) |
Distal monosomy 7q36 | (Orphanet:1636) |
Distal trisomy 6p | (Orphanet:1745) |
Dopa-responsive dystonia due to sepiapterin reductase deficiency | (Orphanet:70594) |
Dorfman-Chanarin disease | (Orphanet:98907) |
Down syndrome | (Orphanet:870) |
Duane anomaly - myopathy - scoliosis | (Orphanet:50817) |
Duane retraction syndrome | (Orphanet:233) |
Dubowitz syndrome | (Orphanet:235) |
Dyschondrosteosis - nephritis | (Orphanet:1765) |
Dysequilibrium syndrome | (Orphanet:1766) |
ECTODERMAL DYSPLASIA, SENSORINEURAL HEARING LOSS, AND DISTINCTIVEFACIAL FEATURES | (OMIM:609944) |
EEM syndrome | (Orphanet:1897) |
EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE 1 | (OMIM:601776) |
Ear-patella-short stature syndrome | (Orphanet:2554) |
Early-onset parkinsonism - intellectual deficit | (Orphanet:2379) |
Ehlers-Danlos syndrome, musculocontractural type | (Orphanet:2953) |
Ellis Van Creveld syndrome | (Orphanet:289) |
Emanuel syndrome | (Orphanet:96170) |
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria | (Orphanet:1035) |
Endosteal sclerosis - cerebellar hypoplasia | (Orphanet:85186) |
Episodic ataxia type 4 | (Orphanet:79136) |
Erythrokeratodermia - ataxia | (Orphanet:1955) |
Extrasystoles - short stature - hyperpigmentation - microcephaly | (Orphanet:1964) |
FACIAL PARESIS, HEREDITARY CONGENITAL, 3 | (OMIM:614744) |
FANCONI ANEMIA, COMPLEMENTATION GROUP A | (OMIM:227650) |
FANCONI ANEMIA, COMPLEMENTATION GROUP C | (OMIM:227645) |
FANCONI ANEMIA, COMPLEMENTATION GROUP D2 | (OMIM:227646) |
FANCONI ANEMIA, COMPLEMENTATION GROUP E | (OMIM:600901) |
FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULARINVOLVEMENT | (OMIM:600638) |
FRONTOOCULAR SYNDROME | (OMIM:605321) |
Facial ectodermal dysplasia | (Orphanet:1807) |
Fallot complex - intellectual deficit - growth delay | (Orphanet:3304) |
Familial hypomagnesemia - hypercalciuria - nephrocalcinosis | (Orphanet:31043) |
Familial vascular leukoencephalopathy | (Orphanet:36383) |
Fanconi anemia | (Orphanet:84) |
Femoral-facial syndrome | (Orphanet:1988) |
Fetal Gaucher disease | (Orphanet:85212) |
Fetal alcohol syndrome | (Orphanet:1915) |
Fetal hydantoin syndrome | (Orphanet:1912) |
Fetal iodine syndrome | (Orphanet:1910) |
Fetal trimethadione syndrome | (Orphanet:1913) |
Floating-Harbor syndrome | (Orphanet:2044) |
Focal dermal hypoplasia | (Orphanet:2092) |
Foveal hypoplasia - presenile cataract | (Orphanet:2253) |
Fragile X syndrome | (Orphanet:908) |
Freeman-Sheldon syndrome | (Orphanet:2053) |
Frontonasal dysplasia with alopecia and genital anomaly | (Orphanet:228390) |
GM1 gangliosidosis | (Orphanet:354) |
Galloway-Mowat syndrome | (Orphanet:2065) |
Gastrocutaneous syndrome | (Orphanet:2069) |
Gaucher disease | (Orphanet:355) |
Gaucher disease - ophthalmoplegia - cardiovascular calcification | (Orphanet:2072) |
Gaucher disease type 2 | (Orphanet:77260) |
Gaucher disease type 3 | (Orphanet:77261) |
German syndrome | (Orphanet:2077) |
Goldblatt syndrome | (Orphanet:166272) |
Goldenhar syndrome | (Orphanet:374) |
Gorlin syndrome | (Orphanet:377) |
Granular corneal dystrophy type I | (Orphanet:98962) |
Gómez-López-Hernández syndrome | (Orphanet:1532) |
HELSMOORTEL-VAN DER AA SYNDROME | (OMIM:615873) |
HYPOGLYCEMIA, LEUCINE-INDUCED | (OMIM:240800) |
Haddad syndrome | (Orphanet:99803) |
Hallermann-Streiff syndrome | (Orphanet:2108) |
Hand-foot-genital syndrome | (Orphanet:2438) |
Hartnup syndrome | (Orphanet:2116) |
Hepatic fibrosis - renal cysts - intellectual deficit | (Orphanet:2031) |
Hepatoencephalopathy due to combined oxidative phosphorylation deficiency type 1 | (Orphanet:137681) |
Hermansky-Pudlak syndrome | (Orphanet:79430) |
Hermansky-Pudlak syndrome with neutropenia | (Orphanet:183678) |
Hidrotic ectodermal dysplasia | (Orphanet:189) |
Hirsutism - skeletal dysplasia - intellectual deficit | (Orphanet:2156) |
Holmes-Gang syndrome | (Orphanet:93970) |
Holoprosencephaly - craniosynostosis | (Orphanet:2163) |
Hoyeraal-Hreidarsson syndrome | (Orphanet:3322) |
Hydrocephalus - costovertebral dysplasia - Sprengel anomaly | (Orphanet:2180) |
Hydrocephalus with stenosis of aqueduct of Sylvius | (Orphanet:2182) |
Hypertelorism, Teebi type | (Orphanet:1519) |
Hypertryptophanemia | (Orphanet:2224) |
Hypotonia-speech impairment-severe cognitive delay syndrome | (Orphanet:371364) |
IVIC syndrome | (Orphanet:2307) |
Incontinentia pigmenti | (Orphanet:464) |
Infantile cerebellar-retinal degeneration | (Orphanet:313850) |
Infantile choroido cerebral calcification syndrome | (Orphanet:1313) |
Infantile neuroaxonal dystrophy | (Orphanet:35069) |
Insulin-resistance syndrome type A | (Orphanet:2297) |
Intellectual deficit - athetosis - microphthalmia | (Orphanet:1236) |
Intellectual deficit, Buenos-Aires type | (Orphanet:3079) |
Intellectual deficit, Wolff type | (Orphanet:3080) |
Intellectual deficit, X-linked - Dandy-Walker malformation - basal ganglia disease - Seizures | (Orphanet:1568) |
Intellectual deficit, X-linked - dysmorphism - cerebral atrophy | (Orphanet:2958) |
Intellectual deficit, X-linked - seizures - psoriasis | (Orphanet:3052) |
Intellectual deficit, X-linked - short stature - obesity | (Orphanet:3055) |
Intellectual deficit, X-linked, Armfield type | (Orphanet:85276) |
Intellectual deficit, X-linked, Brooks type | (Orphanet:3056) |
Intellectual deficit, X-linked, Cantagrel type | (Orphanet:85277) |
Intellectual deficit, X-linked, Miles-Carpenter type | (Orphanet:85283) |
Intellectual deficit, X-linked, Raymond type | (Orphanet:163953) |
Intellectual disability-developmental delay-contractures syndrome | (Orphanet:3454) |
Intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome | (Orphanet:363611) |
Intellectual disability-seizures-hypotonia-ophthalmologic-skeletal anomalies syndrome | (Orphanet:369837) |
Intellectual disability-strabismus syndrome | (Orphanet:363528) |
Isolated NADH-CoQ reductase deficiency | (Orphanet:2609) |
Isolated glycerol kinase deficiency | (Orphanet:408) |
Isolated plagiocephaly | (Orphanet:35098) |
Ito hypomelanosis | (Orphanet:435) |
Jackson-Weiss syndrome | (Orphanet:1540) |
Jacobsen syndrome | (Orphanet:2308) |
Johanson-Blizzard syndrome | (Orphanet:2315) |
Joubert syndrome | (Orphanet:475) |
Joubert syndrome 14 | (OMIM:614424) |
Joubert syndrome 21 | (OMIM:615636) |
Joubert syndrome 28 | (OMIM:617121) |
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) |
Juberg-Marsidi syndrome | (Orphanet:93972) |
KABUKI SYNDROME 2 | (OMIM:300867) |
KBG syndrome | (Orphanet:2332) |
Kabuki syndrome | (Orphanet:2322) |
Karsch-Neugebauer syndrome | (Orphanet:2329) |
Kenny-Caffey syndrome | (Orphanet:2333) |
Knobloch syndrome | (Orphanet:1571) |
Koolen-De Vries syndrome | (Orphanet:96169) |
L-2-hydroxyglutaric aciduria | (Orphanet:79314) |
LAMB-2-related infantile-onset nephrotic syndrome | (Orphanet:306507) |
LAMBOTTE SYNDROME | (OMIM:245552) |
LEOPARD SYNDROME 1 | (OMIM:151100) |
Larsen-like osseous dysplasia - short stature | (Orphanet:2370) |
Laurence-Moon syndrome | (Orphanet:2377) |
Leber congenital amaurosis 16 | (OMIM:614186) |
Leigh syndrome | (Orphanet:506) |
Leri pleonosteosis | (Orphanet:2900) |
Leukocyte adhesion deficiency | (Orphanet:2968) |
Linear verrucous nevus syndrome | (Orphanet:2611) |
MASA syndrome | (Orphanet:2466) |
MEIER-GORLIN SYNDROME 1 | (OMIM:224690) |
MENTAL RETARDATION, ANTERIOR MAXILLARY PROTRUSION, AND STRABISMUS | (OMIM:613671) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 18 | (OMIM:615074) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 31 | (OMIM:616158) |
MENTAL RETARDATION, AUTOSOMAL DOMINANT 32 | (OMIM:616268) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 1 | (OMIM:249500) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 39 | (OMIM:615541) |
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 | (OMIM:611091) |
MENTAL RETARDATION, X-LINKED 101 | (OMIM:300928) |
MENTAL RETARDATION, X-LINKED 90 | (OMIM:300850) |
MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE III | (OMIM:210730) |
MICROPHTHALMIA, ISOLATED, WITH CATARACT 1 | (OMIM:156850) |
MOMO syndrome | (Orphanet:2563) |
MPDU1-CDG | (Orphanet:79323) |
MRCS syndrome | (Orphanet:263347) |
MULTIPLE SYNOSTOSES SYNDROME 1 | (OMIM:186500) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3 | (OMIM:253280) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 4 | (OMIM:253800) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14 | (OMIM:615351) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 2 | (OMIM:613156) |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 3 | (OMIM:613151) |
MYASTHENIC SYNDROME, CONGENITAL, 4A, SLOW-CHANNEL | (OMIM:605809) |
MYASTHENIC SYNDROME, CONGENITAL, 4C, ASSOCIATED WITH ACETYLCHOLINERECEPTOR DEFICIENCY | (OMIM:608931) |
Marden-Walker syndrome | (Orphanet:2461) |
Marfanoid syndrome, De Silva type | (Orphanet:2464) |
Marinesco-Sjögren syndrome | (Orphanet:559) |
Marshall syndrome | (Orphanet:560) |
McDonough syndrome | (Orphanet:2471) |
Mesomelic dwarfism, Nievergelt type | (Orphanet:2633) |
Mesomelic dwarfism, Reinhardt-Pfeiffer type | (Orphanet:2634) |
Metaphyseal dysostosis - intellectual deficit - conductive deafness | (Orphanet:2502) |
Micrencephaly - corpus callosum agenesis - abnormal genitalia | (Orphanet:2508) |
Microbrachycephaly - ptosis - cleft lip | (Orphanet:2511) |
Microcephaly - facio-cardio-skeletal syndrome, Hadziselimovic type | (Orphanet:217026) |
Microcephaly - seizures - intellectual deficit - heart disease | (Orphanet:2519) |
Microcephaly-capillary malformation syndrome | (Orphanet:294016) |
Microphthalmia - cataract | (Orphanet:2543) |
Mietens syndrome | (Orphanet:2557) |
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria | (Orphanet:1933) |
Mitochondrial encephalo-cardio-myopathy due to TMEM70 deficiency | (Orphanet:1194) |
Moebius syndrome | (Orphanet:570) |
Monosomy 18q | (Orphanet:1600) |
Monosomy 22q13 | (Orphanet:48652) |
Monosomy 5p | (Orphanet:281) |
Monosomy 9p | (Orphanet:261112) |
Monosomy 9q22.3 | (Orphanet:77301) |
Morning glory syndrome | (Orphanet:35737) |
Mosaic trisomy 8 | (Orphanet:96061) |
Mowat-Wilson syndrome | (Orphanet:2152) |
Mucolipidosis type 4 | (Orphanet:578) |
Mulibrey nanism | (Orphanet:2576) |
Mullerian duct anomalies - limb anomalies | (Orphanet:2491) |
Multiminicore myopathy | (Orphanet:598) |
Multiple acyl-CoA dehydrogenase deficiency | (Orphanet:26791) |
Multiple synostoses syndrome | (Orphanet:3237) |
Muscle-eye-brain disease | (Orphanet:588) |
Myhre syndrome | (Orphanet:2588) |
Myopathy, lactic acidosis, and sideroblastic anemia 2; MLASA2 | (OMIM:613561) |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1E | (OMIM:614565) |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F | (OMIM:615058) |
NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2B | (OMIM:610427) |
NYSTAGMUS 2, CONGENITAL, AUTOSOMAL DOMINANT | (OMIM:164100) |
NYSTAGMUS 4, CONGENITAL, AUTOSOMAL DOMINANT | (OMIM:193003) |
NYSTAGMUS 5, CONGENITAL, X-LINKED | (OMIM:300589) |
Nance-Horan syndrome | (Orphanet:627) |
Nanophthalmia | (Orphanet:35612) |
Nasopalpebral lipoma - coloboma - telecanthus | (Orphanet:2399) |
Neonatal adrenoleukodystrophy | (Orphanet:44) |
Nephronophthisis 18 | (OMIM:615862) |
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | (Orphanet:88639) |
Neuroectodermal melanolysosomal disease | (Orphanet:33445) |
Non-distal monosomy 10q | (Orphanet:1581) |
Non-progressive cerebellar ataxia with intellectual deficit | (Orphanet:314647) |
Non-rhizomelic chondrodysplasia punctata | (Orphanet:176) |
Noonan syndrome | (Orphanet:648) |
Noonan syndrome with multiple lentigines | (Orphanet:500) |
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia | (Orphanet:363972) |
Noonan syndrome-like disorder with loose anagen hair | (Orphanet:2701) |
OPHTHALMOPLEGIA TOTALIS WITH PTOSIS AND MIOSIS | (OMIM:258400) |
OPITZ-KAVEGGIA SYNDROME | (OMIM:305450) |
OPTIC ATROPHY 1 | (OMIM:165500) |
Ocular albinism | (Orphanet:284804) |
Ocular albinism with congenital sensorineural deafness | (Orphanet:352740) |
Ocular albinism with late-onset sensorineural deafness | (Orphanet:1000) |
Oculo-reno-cerebellar syndrome | (Orphanet:2715) |
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) |
Oculodentodigital dysplasia | (Orphanet:2710) |
Oculoosteocutaneous syndrome | (Orphanet:2713) |
Olivopontocerebellar atrophy - deafness | (Orphanet:2732) |
Opitz G/BBB syndrome | (Orphanet:2745) |
Orofaciodigital syndrome type 8 | (Orphanet:2755) |
Orofaciodigital syndrome type 9 | (Orphanet:141007) |
Osteodysplasty, Melnick-Needles type | (Orphanet:2484) |
Otospondylomegaepiphyseal dysplasia | (Orphanet:1427) |
PELGER-HUET ANOMALY | (OMIM:169400) |
PERIVENTRICULAR NODULAR HETEROTOPIA 6 | (OMIM:615544) |
PLANTAR LIPOMATOSIS, UNUSUAL FACIES, AND DEVELOPMENTAL DELAY | (OMIM:602342) |
PONTOCEREBELLAR HYPOPLASIA, TYPE 1B | (OMIM:614678) |
PORETTI-BOLTSHAUSER SYNDROME | (OMIM:615960) |
PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM | (OMIM:614501) |
Pelizaeus-Merzbacher-like due to HSPD1 mutation | (Orphanet:280288) |
Pentasomy X | (Orphanet:11) |
Peroxisomal acyl-CoA oxidase deficiency | (Orphanet:2971) |
Peters anomaly | (Orphanet:708) |
Pfeiffer syndrome | (Orphanet:710) |
Phosphoribosylpyrophosphate synthetase superactivity | (Orphanet:3222) |
Pitt-Hopkins syndrome | (Orphanet:2896) |
Pitt-Hopkins-like syndrome 2 | (OMIM:614325) |
Polyarteritis nodosa, childhood-onset | (OMIM:615688) |
Pontine tegmental cap dysplasia | (Orphanet:269229) |
Pontocerebellar hypoplasia type 8 | (Orphanet:324569) |
Pontocerebellar hypoplasia, type 9 | (OMIM:615809) |
Postaxial acrofacial dysostosis | (Orphanet:246) |
Prader-Willi syndrome | (Orphanet:739) |
Presynaptic congenital myasthenic syndromes | (Orphanet:98914) |
Primary cutis verticis gyrata | (Orphanet:671) |
Progeroid syndrome, Petty type | (Orphanet:2963) |
Proteus syndrome | (Orphanet:744) |
Proximal 16p11.2 microdeletion syndrome | (Orphanet:261197) |
Proximal symphalangism | (Orphanet:3250) |
Psychomotor retardation due to S-adenosylhomocysteine hydrolase deficiency | (Orphanet:88618) |
Ptosis - strabismus - ectopic pupils | (Orphanet:2999) |
Pyridoxine-dependent epilepsy | (Orphanet:3006) |
Pyruvate dehydrogenase E2 deficiency | (Orphanet:79244) |
Qazi-Markouizos syndrome | (Orphanet:3010) |
RENAL AND MULLERIAN DUCT HYPOPLASIA | (OMIM:266810) |
RETINOPATHY, PERICENTRAL PIGMENTARY, AUTOSOMAL RECESSIVE | (OMIM:268060) |
RHIZOMELIC DYSPLASIA, SCOLIOSIS, AND RETINITIS PIGMENTOSA | (OMIM:610319) |
ROBINOW-SORAUF SYNDROME | (OMIM:180750) |
Radial ray hypoplasia - choanal atresia | (Orphanet:3026) |
Radio-ulnar synostosis - intellectual deficit - hypotonia | (Orphanet:3270) |
Rasmussen-Johnsen-Thomsen syndrome | (Orphanet:3023) |
Recessive hereditary methemoglobinemia type 1 | (Orphanet:139373) |
Recessive hereditary methemoglobinemia type 2 | (Orphanet:139380) |
Recombinant 8 syndrome | (Orphanet:96167) |
Reis-Bücklers corneal dystrophy | (Orphanet:98961) |
Renal coloboma syndrome | (Orphanet:1475) |
Renier-Gabreels-Jasper syndrome | (Orphanet:93975) |
Renpenning syndrome | (Orphanet:3242) |
Richards-Rundle syndrome | (Orphanet:1399) |
Roifman syndrome | (Orphanet:353298) |
Rothmund-Thomson syndrome | (Orphanet:2909) |
Rubinstein-Taybi syndrome | (Orphanet:783) |
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion | (Orphanet:353281) |
Rubinstein-Taybi syndrome due to CREBBP mutations | (Orphanet:353277) |
SCARF syndrome | (Orphanet:3134) |
SECKEL SYNDROME 1 | (OMIM:210600) |
SHORT STATURE, OPTIC NERVE ATROPHY, AND PELGER-HUET ANOMALY | (OMIM:614800) |
SKELETAL DEFECTS, GENITAL HYPOPLASIA, AND MENTAL RETARDATION | (OMIM:612447) |
SOTOS SYNDROME 1 | (OMIM:117550) |
SPASTIC PARAPLEGIA 50, AUTOSOMAL RECESSIVE | (OMIM:612936) |
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 1 | (OMIM:606002) |
STARGARDT MACULAR DEGENERATION, ABSENT OR HYPOPLASTIC CORPUS CALLOSUM,MENTAL RETARDATION, AND DYSMORPHIC FEATURES | (OMIM:612948) |
STRABISMUS, SUSCEPTIBILITY TOSTRABISMUS, SUSCEPTIBILITY TO, 1, INCLUDED | (OMIM:185100) |
Saethre-Chotzen syndrome | (Orphanet:794) |
Schinzel-Giedion syndrome | (Orphanet:798) |
Schizencephaly | (Orphanet:799) |
Schwartz-Jampel syndrome | (Orphanet:800) |
Seckel syndrome | (Orphanet:808) |
Senior-Boichis syndrome | (Orphanet:84081) |
Senior-Loken syndrome 9 | (OMIM:616629) |
Septo-optic dysplasia | (Orphanet:3157) |
Severe intellectual deficit and progressive spastic paraplegia | (Orphanet:280763) |
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome | (Orphanet:369939) |
Short stature - intellectual deficit - eye anomalies - cleft lip/palate | (Orphanet:2649) |
Shprintzen-Goldberg syndrome | (Orphanet:2462) |
Smith-Fineman-Myers syndrome | (Orphanet:93974) |
Smith-Lemli-Opitz syndrome | (Orphanet:818) |
Smith-Magenis syndrome | (Orphanet:819) |
Solitary median maxillary central incisor syndrome | (Orphanet:2286) |
Sotos syndrome | (Orphanet:821) |
Spinocerebellar ataxia type 25 | (Orphanet:101111) |
Spinocerebellar ataxia type 27 | (Orphanet:98764) |
Spinocerebellar ataxia with axonal neuropathy type 2 | (Orphanet:64753) |
Spondylometaphyseal dysplasia, Golden type | (Orphanet:168544) |
Steinert myotonic dystrophy | (Orphanet:273) |
Stickler syndrome | (Orphanet:828) |
Stiff skin syndrome | (Orphanet:2833) |
Subaortic stenosis - short stature | (Orphanet:3191) |
Summitt syndrome | (Orphanet:3210) |
Syndromic X-linked intellectual deficit due to JARID1C mutation | (Orphanet:85279) |
TMCO1 defect syndrome | (Orphanet:228407) |
Tel Hashomer camptodactyly syndrome | (Orphanet:3292) |
Telecanthus - hypertelorism - strabismus - pes cavus | (Orphanet:3293) |
Tetrasomy 12p | (Orphanet:884) |
Tetrasomy X | (Orphanet:9) |
Thrombocytopenia - absent radius | (Orphanet:3320) |
Toluene embryopathy | (Orphanet:1920) |
Toriello-Lacassie-Droste syndrome | (Orphanet:3339) |
Townes-Brocks syndrome | (Orphanet:857) |
Transketolase deficiency | (ORPHA:488618) |
Treacher-Collins syndrome | (Orphanet:861) |
Trisomy 17p | (Orphanet:261290) |
Trisomy 20p | (Orphanet:261318) |
Trisomy 4p | (Orphanet:1738) |
Urban-Rogers-Meyer syndrome | (Orphanet:3409) |
Uveal coloboma - cleft lip and palate - intellectual deficit | (Orphanet:1473) |
Visceral neuropathy - brain anomalies - facial dysmorphism - developmental delay | (Orphanet:73246) |
W syndrome | (Orphanet:2804) |
Waardenburg syndrome type 1 | (Orphanet:894) |
Weaver syndrome | (Orphanet:3447) |
Weaver-Williams syndrome | (Orphanet:3448) |
White forelock with malformations | (Orphanet:2475) |
Wiedemann-Steiner syndrome | (Orphanet:319182) |
Williams syndrome | (Orphanet:904) |
Wolf-Hirschhorn syndrome | (Orphanet:280) |
Wolfram syndrome 1 | (OMIM:222300) |
Woolly hair | (Orphanet:170) |
X-linked distal arthrogryposis multiplex congenita | (Orphanet:1145) |
X-linked intellectual deficit - cerebellar hypoplasia | (Orphanet:137831) |
X-linked intellectual deficit - hypotonic face | (Orphanet:73220) |
X-linked intellectual deficit, Najm type | (Orphanet:163937) |
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) |
X-linked spastic paraplegia type 16 | (Orphanet:100997) |
X-linked spinocerebellar ataxia type 3 | (Orphanet:85297) |
Xeroderma pigmentosum | (Orphanet:910) |
Zimmermann-Laband syndrome | (Orphanet:3473) |
Zunich-Kaye syndrome | (Orphanet:3474) |
[DEL] SENGERS SYNDROME | (OMIM:212350) |