intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies
MONDO:0859080Mondo
Findings
No curated finding names intellectual developmental disorder, X-linked, syndromic, with pigmentary mosaicism and coarse facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked inheritance
HPO, annotations 2026-09-02
Features
61 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.
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- CholelithiasisHPOHP:0001081
- 2 of 2 reported patients
- Everted lower lip vermilionHPOHP:0000232
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 12 of 12 reported patients
- HypotoniaHPOHP:0001252
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 2 of 2 reported patients
- Motor stereotypyHPOHP:0000733
- 2 of 2 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 2 of 2 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 5 of 5 reported patients
- Sleep disturbanceHPOHP:0002360
- 2 of 2 reported patients
- Coarse facial featuresHPOHP:0000280
- 6 of 7 reported patients
- Hypopigmentation of the skinHPOHP:0001010
- 6 of 7 reported patients
Show the remaining 49
- HypertelorismHPOHP:0000316
- 4 of 5 reported patients
- SeizureHPOHP:0001250
- 4 of 5 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 3 of 5 reported patients
- Pes planusHPOHP:0001763
- 3 of 5 reported patients
- Acanthosis nigricansHPOHP:0000956
- 1 of 2 reported patients
- Aggressive behaviorHPOHP:0000718
- 1 of 2 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.
- TFE3HGNC:11752
- Definitive · G2P · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025