01
WASHC5
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 1
Basic Information
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Core Information
- Disease Name
- Ritscher-Schinzel Syndrome 1
- Standard Disease Name
- ritscher-schinzel syndrome 1
- MeSH Tree
- No data
- ICD-10
- Q87.8
Identifiers
- DO ID
- No data
- MeSH ID
- C535313
- OMIM ID
- 220210|220210|300963
- UMLS ID
- C0796137
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:A syndrome of craniofacial anomalies (macrocephaly, a prominent forehead and occiput, foramina parietalia, hypertelorism, downslanting palpebral fissures, depressed nasal bridge, narrow palate, and apparently low-set ears), and atrioventricular septal defect. One sister in the original report had Dandy-Walker malformation (absent or hypoplastic cerebellar vermis, hydrocephalus, and posterior fossa continuing with the fourth ventricle). Additional anomalies include colobomas, hypertelorism, hand abnormalities, and mental retardation.
Related
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Related Targets
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