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Summary Literature (0)
DOID:0111838 - Basilicata-Akhtar syndrome

Disease Ontology 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.

Synonyms: MRXS36, X-linked syndromic mental retardation 36, X-linked syndromic mental retardation Basilicata-Akhtar type

Xenbase Genes :


MIM:
MIM:301032 - BASILICATA-AKHTAR SYNDROME; MRXSBA

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): syndromic X-linked intellectual disability (is_a)