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DO Term : Basilicata-Akhtar syndrome [DOID:0111838] Disease Ontology

Namespace  disease_ontology Obsolete  false
description  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.
  • synonyms:
  • X-linked syndromic mental retardation Basilicata-Akhtar type,
  • X-linked syndromic mental retardation 36,
  • OMIM:301032,
  • MRXS36,
  • 301032
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Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents