intellectual developmental disorder, X-linked 112
MONDO:0957496Mondo
Findings
No curated finding names intellectual developmental disorder, X-linked 112 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
41 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.
- Abnormal heart morphologyHPOHP:0001627
- 1 of 1 reported patient
- Ambiguous genitaliaHPOHP:0000062
- 1 of 1 reported patient
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 2 reported patients
- ConstipationHPOHP:0002019
- 2 of 2 reported patients
- CryptorchidismHPOHP:0000028
- 2 of 2 reported patients
- Cupped earHPOHP:0000378
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 26 of 26 reported patients
- Dilatation of the renal pelvisHPOHP:0010946
- 1 of 1 reported patient
- Ectopic kidneyHPOHP:0000086
- 1 of 1 reported patient
- EnuresisHPOHP:0000805
- 2 of 2 reported patients
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 4 of 4 reported patients
Show the remaining 29
- Gastrointestinal dysmotilityHPOHP:0002579
- 2 of 2 reported patients
- Heat intoleranceHPOHP:0002046
- 1 of 1 reported patient
- HypospadiasHPOHP:0000047
- 6 of 6 reported patients
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
- KyphoscoliosisHPOHP:0002751
- 1 of 1 reported patient
- KyphosisHPOHP:0002808
- 1 of 1 reported patient
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.
- ZMYM3HGNC:13054
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · G2P · X-linked · 2023