intellectual developmental disorder with hypotonia and behavioral abnormalities
MONDO:0032897Mondo
Findings
No curated finding names intellectual developmental disorder with hypotonia and 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
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.
- Intellectual disabilityHPOHP:0001249
- 11 of 11 reported patients
- Abnormal facial shapeHPOHP:0001999
- 11 of 12 reported patients
- MyopiaHPOHP:0000545
- 6 of 12 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 12 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 3 of 8 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 4 of 12 reported patients
- StrabismusHPOHP:0000486
- 4 of 12 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 3 of 12 reported patients
- Ventricular septal defectHPOHP:0001629
- 3 of 12 reported patients
- Episodic vomitingHPOHP:0002572
- 2 of 12 reported patients
- PtosisHPOHP:0000508
- 2 of 12 reported patients
- SeizureHPOHP:0001250
- 2 of 12 reported patients
Show the remaining 13
- Visual impairmentHPOHP:0000505
- 2 of 12 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 7 reported patients · Male
- Anteriorly placed anusHPOHP:0001545
- 1 of 12 reported patients
- Coarctation of aortaHPOHP:0001680
- 1 of 12 reported patients
- Hypoplastic left ventricleHPOHP:0004383
- 1 of 12 reported patients
- Metopic synostosisHPOHP:0011330
- 1 of 12 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.
- CDK8HGNC:1779
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Moderate · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of