OBO ID: DOID:0111838
Term Name: Basilicata-Akhtar syndrome Search Ontology:
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:
Ontology: Human Disease   ( DOID:0111838 )
OTHER Basilicata-Akhtar syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MSL3 Basilicata-Akhtar syndrome
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None