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Browse result for Basilicata-Akhtar syndrome

※ introduction

    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.

Reference
DiseaseOntology: Basilicata-Akhtar syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD09742Q8N5Y210943
MSL3
MSL complex subunit 3
Homo sapiens