KINSSHIP syndrome (DOID:0112383)
Alliance: disease page
Synonyms: AFF3-related mesomelic dysplasia; KINS; Steichen-Gersdorf type mesomelic dysplasia
Alt IDs: OMIM:619297
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.