intellectual developmental disorder, autosomal dominant 63, with macrocephaly
MONDO:0032939Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 63, with macrocephaly 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
30 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 ability to walkHPOHP:0031936
- 9 of 9 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 9 of 9 reported patients
- MacrocephalyHPOHP:0000256
- 7 of 9 reported patients
- Frontal bossingHPOHP:0002007
- 5 of 7 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 5 of 8 reported patients
- Obsessive-compulsive traitHPOHP:0008770
- 4 of 8 reported patients
- ScoliosisHPOHP:0002650
- 4 of 8 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 4 of 9 reported patients
- Motor stereotypyHPOHP:0000733
- 4 of 9 reported patients
- Aggressive behaviorHPOHP:0000718
- 3 of 9 reported patients
- SeizureHPOHP:0001250
- 3 of 9 reported patients
Show the remaining 18
- Highly arched eyebrowHPOHP:0002553
- 2 of 7 reported patients
- Low hanging columellaHPOHP:0009765
- 2 of 7 reported patients
- Wide mouthHPOHP:0000154
- 2 of 7 reported patients
- Tapered fingerHPOHP:0001182
- 2 of 8 reported patients
- Chronic constipationHPOHP:0012450
- 2 of 9 reported patients
- Delayed ability to sitHPOHP:0025336
- 2 of 9 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.
- TRIOHGNC:12303
- Strong · G2P · Autosomal dominant · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2020