intellectual developmental disorder, autosomal dominant 75
MONDO:0975838Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 75 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
31 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.
- Cerebellar atrophyHPOHP:0001272
- 3 of 3 reported patients
- EpicanthusHPOHP:0000286
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 15 of 15 reported patients
- HypertelorismHPOHP:0000316
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 1 of 1 reported patient
- Narrow palpebral fissureHPOHP:0045025
- 1 of 1 reported patient
- Noncompaction cardiomyopathyHPOHP:0012817
- 1 of 1 reported patient
- RetrognathiaHPOHP:0000278
- 1 of 1 reported patient
- Short statureHPOHP:0004322
- 1 of 1 reported patient
- Small for gestational ageHPOHP:0001518
- 1 of 1 reported patient
Show the remaining 19
- Smooth philtrumHPOHP:0000319
- 1 of 1 reported patient
- Thin upper lip vermilionHPOHP:0000219
- 1 of 1 reported patient
- Upslanted palpebral fissureHPOHP:0000582
- 1 of 1 reported patient
- Wide nasal bridgeHPOHP:0000431
- 1 of 1 reported patient
- Abnormal facial shapeHPOHP:0001999
- 9 of 15 reported patients
- Axial hypotoniaHPOHP:0008936
- 7 of 14 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.
- DHX9HGNC:2750
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · G2P · Autosomal dominant · 2025