FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term Basilicata-Akhtar syndrome ID (Ontology) DOID:0111838 (Human Disease)
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.
Also Known As "MRXS36" ; "X-linked syndromic mental retardation 36" ; "X-linked syndromic mental retardation Basilicata-Akhtar type"
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 Genes
 Basilicata-Akhtar syndrome       1
 for disease ribbon | Basilicata-Akhtar syndrome       1
 model of | Basilicata-Akhtar syndrome       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease_________
syndromic intellectual disability__|
                                   syndromic X-linked intellectual disability
                                    |__Basilicata-Akhtar syndrome  1 rec.
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Is a syndromic X-linked intellectual disability
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Synonyms
  • "MRXS36" EXACT OMO:0003012
    "X-linked syndromic mental retardation 36" EXACT
    "X-linked syndromic mental retardation Basilicata-Akhtar type" EXACT
Secondary IDs
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MIM:301032