KINSSHIP syndrome
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 AFF3 on chromosome 2q11.2.
MONDO:0000426
autosomal dominant disease
is_a
MONDO:0002254
syndromic disease
is_a
SPAC6G9.15c