ORPHA:522520
Syndromic genetic disorder with strabismus
- Type
- Category
- Group
- Group of disorders
- Status
- active
This term does not characterize a disease but a group of diseases. To learn about the diseases included under this term, you can consult the classifications.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Syndromic genetic disorder with strabismus | |
| fr | Maladie génétique syndromique avec strabisme | |
| de | Syndromale genetische Krankheit mit Strabismus | |
| es | Trastorno genético sindrómico con estramismo | |
| it | Malattia genetica sindromica con strabismo | |
| nl | Syndromale genetische stoornis met strabisme | |
| pt | Doença genética sindromática com estrabismo | |
| pl | Zespół choroby genetycznej przebiegający z zezem | |
| cs | Syndromická genetická porucha se strabismem | |
| uk | Синдромне генетично обумовлене захворювання з косоокістю | |
| zh | 综合征性遗传性疾病伴斜视 | |
| tr | Şaşılık ile seyreden sendromik genetik bozukluk |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| UMLS | C5681432 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:522518Rare genetic disorder with strabismus
rare genetic diseases
Children (64):
- ORPHA:2283998q12 microduplication syndrome
- ORPHA:79281Alpha-N-acetylgalactosaminidase deficiency type 3
- ORPHA:1064Aniridia-renal agenesis-psychomotor retardation syndrome
- ORPHA:562559Anterior maxillary protrusion-strabismus-intellectual disability syndrome
- ORPHA:1129Arachnodactyly-abnormal ossification-intellectual disability syndrome
- ORPHA:1188Ataxia-deafness-intellectual disability syndrome
- ORPHA:100Ataxia-telangiectasia
- ORPHA:2057Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
- ORPHA:1246Brachydactyly-nystagmus-cerebellar ataxia syndrome
- ORPHA:50815Branchiogenic deafness syndrome
- ORPHA:3474CHIME syndrome
- ORPHA:175Cartilage-hair hypoplasia
- ORPHA:85278Christianson syndrome
- ORPHA:190Coats disease
- ORPHA:1369Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
- ORPHA:45358Congenital fibrosis of extraocular muscles
- ORPHA:272Congenital muscular dystrophy, Fukuyama type
- ORPHA:98684Craniostenosis with strabismus
- ORPHA:1548Cryptorchidism-arachnodactyly-intellectual disability syndrome
- ORPHA:2674Cyprus facial-neuromusculoskeletal syndrome
- ORPHA:3214Deaf blind hypopigmentation syndrome, Yemenite type
- ORPHA:3038Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
- ORPHA:908Fragile X syndrome
- ORPHA:228390Frontonasal dysplasia-alopecia-genital anomalies syndrome
- ORPHA:592564GNAO1-related developmental delay-seizures-movement disorder spectrum
- ORPHA:77260Gaucher disease type 2
- ORPHA:436141HIDEA syndrome
- ORPHA:99803Haddad syndrome
- ORPHA:2163Holoprosencephaly-craniosynostosis syndrome
- ORPHA:2744Horizontal gaze palsy with progressive scoliosis
- ORPHA:2307IVIC syndrome
- ORPHA:1313Infantile choroidocerebral calcification syndrome
- ORPHA:522077Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
- ORPHA:363528Intellectual disability-strabismus syndrome
- ORPHA:2968Leukocyte adhesion deficiency
- ORPHA:559Marinesco-Sjögren syndrome
- ORPHA:2471McDonough syndrome
- ORPHA:2511Microbrachycephaly-ptosis-cleft lip syndrome
- ORPHA:2519Microcephaly-seizures-intellectual disability-heart disease syndrome
- ORPHA:2557Mietens syndrome
- ORPHA:570Moebius syndrome
- ORPHA:77301Monosomy 9q22.3 syndrome
- ORPHA:35737Morning glory disc anomaly
- ORPHA:578Mucolipidosis type IV
- ORPHA:588Muscle-eye-brain disease
- ORPHA:44Neonatal adrenoleukodystrophy
- ORPHA:33445Neuroectodermal melanolysosomal disease
- ORPHA:1581Non-distal deletion 10q syndrome
- ORPHA:79434Oculocutaneous albinism type 1B
- ORPHA:79435Oculocutaneous albinism type 4
- ORPHA:2713Oculoosteocutaneous syndrome
- ORPHA:93293Okihiro syndrome
- ORPHA:2999Ptosis-strabismus-ectopic pupils syndrome
- ORPHA:3010Qazi-Markouizos syndrome
- ORPHA:3026Radial ray hypoplasia-choanal atresia syndrome
- ORPHA:3270Radioulnar synostosis-developmental delay-hypotonia syndrome
- ORPHA:467176Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
- ORPHA:2715Severe oculo-renal-cerebellar syndrome
- ORPHA:3293Telecanthus-hypertelorism-strabismus-pes cavus syndrome
- ORPHA:861Treacher-Collins syndrome
- ORPHA:73246Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
- ORPHA:1568X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
- ORPHA:3055X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
- ORPHA:3052X-linked intellectual disability-seizures-psoriasis syndrome
4
Genes
0 directOrphanet records no gene directly on this code.
5
Prevalence and incidence
0 recordsNo prevalence record in this release.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/522520
- This record as JSON: /data/d/522520.json