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 )

Relationships
is a type of: autosomal dominant disease syndrome