Term Name: | KINSSHIP syndrome |
---|---|
Synonyms: | 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. |
Ontology: | Human Disease [DOID:0112383] ( DOID:0112383 ) |