Search Ontology:
Human Disease
KINSSHIP syndrome
- Term ID
- DOID:0112383
- Synonyms
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- AFF3-related mesomelic dysplasia
- KINS
- Steichen-Gersdorf type mesomelic dysplasia
- Definition
- A syndrome characterized by developmental delay, impaired intellectual development, seizures, mesomelic dysplasia, dysmorphic facial features, horseshoe or hypoplastic kidney, and failure to thrive that has_material_basis_in heterozygous mutation in the AFF3 gene on chromosome 2q11.2. (2)
- References
- Ontology
- Human Disease ( DOID:0112383 )
- is a type of
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