intellectual developmental disorder, X-linked 108
MONDO:0026723Mondo
Findings
No curated finding names intellectual developmental disorder, X-linked 108 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
27 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.
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 3 of 3 reported patients
- Brisk reflexesHPOHP:0001348
- 2 of 5 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 5 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 5 reported patients
- HypotoniaHPOHP:0001252
- 2 of 5 reported patients
- Long faceHPOHP:0000276
- 2 of 5 reported patients
- OverweightHPOHP:0025502
- 2 of 5 reported patients
- Proximal muscle weaknessHPOHP:0003701
- 2 of 5 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 5 reported patients
- Babinski signHPOHP:0003487
- 1 of 5 reported patients
- Broad-based gaitHPOHP:0002136
- 1 of 5 reported patients
Show the remaining 15
- Deeply set eyeHPOHP:0000490
- 1 of 5 reported patients
- Delayed ability to sitHPOHP:0025336
- 1 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 5 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 5 reported patients
- DroolingHPOHP:0002307
- 1 of 5 reported patients
- Gait disturbanceHPOHP:0001288
- 1 of 5 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.
- SLC9A7HGNC:17123
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2020
- Moderate · PanelApp Australia · X-linked · 2025
- Limited · Ambry Genetics · X-linked · 2019
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2021
- Limited · G2P · X-linked · 2020
Where it sits
Other names
1 name
Resolves to: intellectual developmental disorder, X-linked 108
- Also called
- intellectual developmental disorder, X-linked 108, X-linked recessive