intellectual disability, X-linked syndromic, Turner type
Findings
No curated finding names intellectual disability, X-linked syndromic, Turner type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
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.
Definition from the Mondo Disease Ontology (MONDO:0010407), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
35 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Intellectual disabilityHPOHP:0001249
- 25 of 25 reported patients
- Motor delayHPOHP:0001270
- 20 of 21 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 15 of 16 reported patients
- Delayed ability to walkHPOHP:0031936
- 16 of 19 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 16 of 21 reported patients
- Broad nasal tipHPOHP:0000455
- 15 of 21 reported patients
- Deeply set eyeHPO
Show the remaining 23
- Short philtrumHPOHP:0000322
- 10 of 21 reported patients
- Motor stereotypyHPOHP:0000733
- 8 of 17 reported patients
- Long faceHPOHP:0000276
- 12 of 27 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 7 reported patients · Male
- Overlapping toeHPOHP:0001845
- 9 of 21 reported patients
- Short noseHPOHP:0003196
- 8 of 21 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- HUWE1HGNC:30892
- Definitive · Ambry Genetics · X-linked · 2018
- Definitive · Illumina · X-linked · 2020
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
Where it sits
Other names
6 names
Resolves to: intellectual disability, X-linked syndromic, Turner type
- Also called
- Brooks Wisniewski Brown syndromeBrooks-Wisniewski-Brown Syndromemental retardation and macrocephaly syndromemental retardation, X-linked, syndromic, Turner typeMRXSTX-linked intellectual disability, Turner type