Details of Disease

General Information of Disease (ID: DISBRA3L)

• Disease Name: Intellectual disability, X-linked syndromic, Turner type
• Synonyms: mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown type; mental retardation, X-linked, syndromic, Brooks-Wisniewski-Brown Type; X-linked mental retardation Brooks type; Juberg-Marsidi Syndrome; mental retardation, X-Linked, with growth retardation, deafness, and microgenitalism; Brooks Wisniewski Brown syndrome; MRXST; X-linked intellectual disability, Brooks type; mental retardation and macrocephaly syndrome; intellectual disability, X-linked syndromic, Turner type; mental retardation, X-linked, syndromic, Turner type; X-linked intellectual disability, Turner type; Brooks-Wisniewski-Brown syndrome; Brooks-Wisniewski-Brown Syndrome; syndromic X-linked intellectual disability Turner type
• Definition: An X-linked syndromic intellectual disability characterized by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.
• Disease Hierarchy:
  DISG1YOH: X-linked syndromic intellectual disability
  DISBRA3L: Intellectual disability, X-linked syndromic, Turner type
• Disease Identifiers:
  MONDO ID: MONDO_0010407
  MESH ID: C567476
  UMLS CUI: C2678046
  OMIM ID: 309590
  MedGen ID: 394425
  Orphanet ID: 85328
  SNOMED CT ID: 725912001

Molecular Interaction Atlas (MIA) of This Disease

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
HUWE1	OTFH6BJS	Definitive	X-linked	[1]

References

• [1] Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Hum Mutat. 2017 May;38(5):600-608. doi: 10.1002/humu.23183. Epub 2017 Feb 13.