developmental delay with or without intellectual impairment or behavioral abnormalities
MONDO:0859199Mondo
Findings
No curated finding names developmental delay with or without intellectual impairment or behavioral abnormalities 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
51 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
- 24 of 28 reported patients
- Motor delayHPOHP:0001270
- 6 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 18 of 28 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 8 reported patients
- HypotoniaHPOHP:0001252
- 16 of 28 reported patients
- Feeding difficultiesHPOHP:0011968
- 9 of 18 reported patients · Neonatal onset
- High foreheadHPOHP:0000348
- 4 of 8 reported patients
- MacrocephalyHPOHP:0000256
- 10 of 26 reported patients
- High, narrow palateHPOHP:0002705
- 3 of 8 reported patients
- Low-set earsHPOHP:0000369
- 3 of 8 reported patients
- OverweightHPOHP:0025502
- 6 of 20 reported patients
- Joint hypermobilityHPOHP:0001382
- 8 of 28 reported patients
Show the remaining 39
- AutismHPOHP:0000717
- 2 of 8 reported patients
- Caesarean sectionHPOHP:0011410
- 5 of 20 reported patients · Congenital onset
- Large foreheadHPOHP:0002003
- 2 of 8 reported patients
- Pes planusHPOHP:0001763
- 2 of 8 reported patients
- Recurrent otitis mediaHPOHP:0000403
- 5 of 20 reported patients
- Short attention spanHPOHP:0000736
- 2 of 8 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.
- TAOK1HGNC:29259
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of