01
EHMT1
No data
- Entity Type
- Diseases
- Relation Groups
- 1
- Relation Preview
- 8
Basic Information
Grouped by core information, identifiers, and descriptions.
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Core Information
- Disease Name
- Kleefstra syndrome
- Standard Disease Name
- kleefstra syndrome
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- C563043
- OMIM ID
- 610253
- UMLS ID
- C0795833
- HPO ID
- No data
Description and Extensions
- Description
- JABL99:Deletion of the long arm of chromosome 9. It is a rare chromosomal aberration with a variable phenotype. Common manifestations include hypotonia, growth and mental retardation, and down-slanting or oblique palpebral fissures. Additional anomalies may include arhinencephaly, malformed ears, atrial or ventricular septal defects, and lung hypoplasia.
Related
Related Entities
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