intellectual developmental disorder, autosomal dominant 74
MONDO:0958203Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 74 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
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.
- Delayed gross motor developmentHPOHP:0002194
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 8 of 8 reported patients
- Global developmental delayHPOHP:0001263
- 13 of 13 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 4 of 4 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 2 of 2 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 2 of 2 reported patients
- Sleep disturbanceHPOHP:0002360
- 6 of 6 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 11 of 12 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 10 of 13 reported patients
- Feeding difficultiesHPOHP:0011968
- 9 of 12 reported patients
- Delayed ability to walkHPOHP:0031936
- 8 of 12 reported patients
- Happy demeanorHPOHP:0040082
- 7 of 12 reported patients
Show the remaining 19
- HypotoniaHPOHP:0001252
- 7 of 12 reported patients
- Deeply set eyeHPOHP:0000490
- 7 of 13 reported patients
- Smooth philtrumHPOHP:0000319
- 6 of 13 reported patients
- Diminished ability to concentrateHPOHP:0031987
- 5 of 13 reported patients
- Absent speechHPOHP:0001344
- 3 of 11 reported patients
- Obstructive sleep apneaHPOHP:0002870
- 3 of 12 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.
- HNRNPCHGNC:5035
- Strong · PanelApp Australia · Autosomal dominant · 2025