intellectual disability, X-linked 106
MONDO:0030907Mondo
Findings
No curated finding names intellectual disability, X-linked 106 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
HPO, annotations 2026-09-02
Features
18 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.
- ClinodactylyHPOHP:0030084
- 2 of 2 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- HypertelorismHPOHP:0000316
- 2 of 2 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients
- Thick vermilion borderHPOHP:0012471
- 2 of 2 reported patients
- HypospadiasHPOHP:0000047
- 2 of 3 reported patients
- Open mouthHPOHP:0000194
- 2 of 3 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 2 reported patients
- Bicuspid aortic valveHPOHP:0001647
- 1 of 2 reported patients
- High hypermetropiaHPOHP:0008499
- 1 of 2 reported patients
Show the remaining 6
- NystagmusHPOHP:0000639
- 1 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 5 reported patients
- Decreased testicular sizeHPOHP:0008734
- 1 of 3 reported patients
- Frontal upsweep of hairHPOHP:0002236
- 1 of 3 reported patients
- SynophrysHPOHP:0000664
- 1 of 3 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 1 of 3 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.
- OGTHGNC:8127
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2021
- Strong · G2P · X-linked · 2025
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · ClinGen · X-linked · 2024
- Moderate · Illumina · X-linked · 2020
Where it sits
Other names
1 name
Resolves to: intellectual disability, X-linked 106
- Also called
- intellectual developmental disorder, X-linked 106, X-linked recessive