| Metadata | |
|---|---|
| ID | DOID:0112383 |
| Name | KINSSHIP syndrome |
| 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. https://pubmed.ncbi.nlm.nih.gov/18616733/, https://pubmed.ncbi.nlm.nih.gov/33961779/ |
| Xrefs | |
| Synonyms |
AFF3-related mesomelic dysplasia [EXACT] KINS [EXACT] Steichen-Gersdorf type mesomelic dysplasia [EXACT] |
| Parent Relationships |
is_a syndrome |