intellectual developmental disorder, autosomal dominant 64
MONDO:0030934Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 64 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
39 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
- 27 of 28 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 26 of 27 reported patients
- Autistic behaviorHPOHP:0000729
- 17 of 27 reported patients
- MicrognathiaHPOHP:0000347
- 13 of 28 reported patients
- Growth delayHPOHP:0001510
- 11 of 27 reported patients
- HypotoniaHPOHP:0001252
- 10 of 27 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 9 of 27 reported patients
- HypertelorismHPOHP:0000316
- 14 of 43 reported patients
- Feeding difficultiesHPOHP:0011968
- 8 of 26 reported patients
- Chronic constipationHPOHP:0012450
- 6 of 26 reported patients
- Short philtrumHPOHP:0000322
- 3 of 15 reported patients
- StrabismusHPOHP:0000486
- 3 of 15 reported patients
Show the remaining 27
- Thin upper lip vermilionHPOHP:0000219
- 3 of 15 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 28 reported patients
- Bulbous noseHPOHP:0000414
- 4 of 30 reported patients
- Low-set earsHPOHP:0000369
- 2 of 15 reported patients
- NystagmusHPOHP:0000639
- 2 of 15 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 2 of 15 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.
- ZNF292HGNC:18410
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
Other names
3 names
Resolves to: intellectual developmental disorder, autosomal dominant 64
- Also called
- mental retardation, autosomal dominant 64MRD64ZNF292-related neurodevelopmental disorder