Basilicata-Akhtar syndrome

Term ID

DOID:0111838

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. https://www.ncbi.nlm.nih.gov/pubmed/30224647

References

• OMIM:301032

Ontology

Human Disease   ( DOID:0111838 )