intellectual developmental disorder, autosomal dominant 70
MONDO:0859333Mondo
Findings
No curated finding names intellectual developmental disorder, autosomal dominant 70 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
33 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
- 3 of 3 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 3 reported patients
- RetrognathiaHPOHP:0000278
- 2 of 3 reported patients
- Broad nasal tipHPOHP:0000455
- 1 of 3 reported patients
- Malar flatteningHPOHP:0000272
- 1 of 3 reported patients
- Pointed chinHPOHP:0000307
- 1 of 3 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 1 of 3 reported patients
- CataractHPOHP:0000518
- 0 of 3 reported patients
- Chiari type I malformationHPOHP:0007099
- 0 of 3 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 0 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 0 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 0 of 3 reported patients
Show the remaining 21
- Hearing impairmentHPOHP:0000365
- 0 of 3 reported patients
- Highly arched eyebrowHPOHP:0002553
- 0 of 3 reported patients
- HydrocephalusHPOHP:0000238
- 0 of 3 reported patients
- HypertelorismHPOHP:0000316
- 0 of 3 reported patients
- HyponatremiaHPOHP:0002902
- 0 of 3 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 0 of 3 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.
- SETD2HGNC:18420
- Limited · Ambry Genetics · Autosomal dominant · 2025