global developmental delay with or without impaired intellectual development
MONDO:0032680Mondo
Findings
No curated finding names global developmental delay with or without impaired intellectual development 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
25 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 speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- Motor delayHPOHP:0001270
- 7 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 9 reported patients
- HypotoniaHPOHP:0001252
- 3 of 9 reported patients
- Bulbous noseHPOHP:0000414
- 2 of 9 reported patients
- Frontal bossingHPOHP:0002007
- 2 of 9 reported patients
- HypospadiasHPOHP:0000047
- 2 of 9 reported patients
- Patent ductus arteriosusHPOHP:0001643
- 2 of 9 reported patients
- Poor fine motor coordinationHPOHP:0007010
- 2 of 9 reported patients
- Short statureHPOHP:0004322
- 2 of 9 reported patients
- Atrial septal defectHPOHP:0001631
- 1 of 9 reported patients
Show the remaining 13
- Broad foreheadHPOHP:0000337
- 1 of 9 reported patients
- HypotelorismHPOHP:0000601
- 1 of 9 reported patients
- Lateral ventricle dilatationHPOHP:0006956
- 1 of 9 reported patients
- Long faceHPOHP:0000276
- 1 of 9 reported patients
- Long palpebral fissureHPOHP:0000637
- 1 of 9 reported patients
- Low-set earsHPOHP:0000369
- 1 of 9 reported patients
Genes
2 genes
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.
- HGNC:2557HGNC:2557
- Definitive · Ambry Genetics · Autosomal dominant · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · G2P · Autosomal dominant · 2025
- EMC10HGNC:27609
- Limited · Franklin by Genoox · Autosomal recessive · 2020
Where it sits
- A kind of