01
Diseases
Chromosome Xp21 Deletion Syndrome
chromosome xp21 deletion syndrome
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
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Core Information
- Disease Name
- Chromosome Xp21 Deletion Syndrome
- Standard Disease Name
- chromosome xp21 deletion syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- 300679
- UMLS ID
- C0795887
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:Deletion of the short arm of X chromosome (Xp21). The phenotype includes the elements of Aland Island eye disease (ocular albinism, foveal hypoplasia, nystagmus, myopia, astigmatism, and color blindness) and Duchenne muscular dystrophy (pseudohypertrophic muscular dystrophy which occurs predominantly in boys), adrenal hypoplasia and retinitis pigmentosa. Mental retardation may be observed in both males and females, including otherwise asymptomatic females.
Related
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