developmental delay with variable intellectual disability and dysmorphic facies
MONDO:0859306Mondo
Findings
No curated finding names developmental delay with variable intellectual disability and dysmorphic facies 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
53 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
- 16 of 16 reported patients
- Intellectual disabilityHPOHP:0001249
- 11 of 15 reported patients
- Autistic behaviorHPOHP:0000729
- 9 of 16 reported patients
- Deeply set eyeHPOHP:0000490
- 6 of 16 reported patients
- High anterior hairlineHPOHP:0009890
- 6 of 16 reported patients
- HypotoniaHPOHP:0001252
- 5 of 16 reported patients
- Thick vermilion borderHPOHP:0012471
- 5 of 16 reported patients
- Aggressive behaviorHPOHP:0000718
- 4 of 16 reported patients
- Broad foreheadHPOHP:0000337
- 4 of 16 reported patients
- Bulbous noseHPOHP:0000414
- 4 of 16 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 4 of 16 reported patients
- Compulsive behaviorsHPOHP:0000722
- 3 of 16 reported patients
Show the remaining 41
- Midface retrusionHPOHP:0011800
- 3 of 16 reported patients
- Prominent supraorbital ridgesHPOHP:0000336
- 3 of 16 reported patients
- SeizureHPOHP:0001250
- 3 of 16 reported patients
- Short philtrumHPOHP:0000322
- 3 of 16 reported patients
- MacrocephalyHPOHP:0000256
- 2 of 12 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 2 of 16 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.
- JARID2HGNC:6196
- Definitive · ClinGen · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of