intellectual disability, X-linked 93
Findings
No curated finding names intellectual disability, X-linked 93 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene.
Definition from the Mondo Disease Ontology (MONDO:0010393), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
12 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
- 2 of 2 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 10 of 10 reported patients
- MacrotiaHPOHP:0000400
- 8 of 10 reported patients
- MacrocephalyHPOHP:0000256
- 4 of 12 reported patients
- Long faceHPOHP:0000276
- 3 of 10 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 10 reported patients
- Cupped earHPOHP:0000378
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.
- BRWD3HGNC:17342
- Definitive · G2P · X-linked · 2015
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020
Where it sits
Other names
5 names
Resolves to: intellectual disability, X-linked 93
- Also called
- BRWD3 non-syndromic X-linked intellectual disabilityintellectual developmental disorder, X-linked 93, X-linked recessiveintellectual disability, X-linked type 93mental retardation, X-linked type 93non-syndromic X-linked intellectual disability caused by mutation in BRWD3