Term Name: | Basilicata-Akhtar syndrome |
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Synonyms: | MRXS36, X-linked syndromic mental retardation 36, X-linked syndromic mental retardation Basilicata-Akhtar type |
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. |
Ontology: | Human Disease [DOID:0111838] ( DOID:0111838 ) |