Basilicata-Akhtar syndrome (DOID:0111838)
Alliance: disease page
Synonyms: MRXS36; X-linked syndromic mental retardation 36; X-linked syndromic mental retardation Basilicata-Akhtar type
Alt IDs: OMIM:301032
Definition: A syndromic X-linked intellectual disability characterized by global developmental delay apparent from infancy, feeding difficulties, hypotonia, and poor or absent speech that has_material_basis_in hemizygous or heterozygous mutation in the MSL3 gene on chromosome Xp22.2.