intellectual disability, X-linked, syndromic 33
Findings
No curated finding names intellectual disability, X-linked, syndromic 33 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the TAF1 gene.
Definition from the Mondo Disease Ontology (MONDO:0010500), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
92 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.
- Delayed gross motor developmentHPOHP:0002194
- 10 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Very frequent (80% to 99% of cases)
- Protruding earHPOHP:0000411
- 11 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- 10 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Prominent protruding coccyxHPOHP:0008472
- 10 of 11 reported patients
- Very frequent (80% to 99% of cases)
- Generalized hypotoniaHPOHP:0001290
Show the remaining 80
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
- Low-set earsHPOHP:0000369
- 9 of 12 reported patients
- Very frequent (80% to 99% of cases)
- Postnatal growth retardationHPOHP:0008897
- 8 of 10 reported patients
- Very frequent (80% to 99% of cases)
- Severe expressive language delayHPOHP:0006863
- Very frequent (80% to 99% of cases)
- Anteverted naresHPOHP:0000463
- 8 of 11 reported patients
- Frequent (30% to 79% of cases)
- Autistic behaviorHPOHP:0000729
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.
- TAF1HGNC:11535
- Definitive · Illumina · X-linked · 2022
- Definitive · G2P · X-linked · 2016
- Strong · Ambry Genetics · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
8 names
Resolves to: intellectual disability, X-linked, syndromic 33
- Also called
- intellectual developmental disorder, X-linked syndromic 33, X-linked recessiveintellectual disability, X-linked, syndromic type 33mental retardation, X-linked, syndromic 33mental retardation, X-linked, syndromic type 33MRXS33TAF1 X-linked syndromic intellectual disabilityX-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndromeX-linked syndromic intellectual disability caused by mutation in TAF1