intellectual developmental disorder with dysmorphic facies and behavioral abnormalities
MONDO:0060760Mondo
Findings
No curated finding names intellectual developmental disorder with dysmorphic facies 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
114 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.
- Broad fingerHPOHP:0001500
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 20 of 20 reported patients
- Global developmental delayHPOHP:0001263
- 20 of 20 reported patients
- HypotoniaHPOHP:0001252
- 9 of 9 reported patients
- Intellectual disabilityHPOHP:0001249
- 20 of 20 reported patients
- StrabismusHPOHP:0000486
- 8 of 8 reported patients
- Thick vermilion borderHPOHP:0012471
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 11 of 20 reported patients
- Sleep disturbanceHPOHP:0002360
- 9 of 20 reported patients
- Autistic behaviorHPOHP:0000729
- 8 of 20 reported patients
- Sleep onset insomniaHPOHP:0031354
- 6 of 18 reported patients
- HyperactivityHPOHP:0000752
- 3 of 10 reported patients
Show the remaining 102
- Recurrent infectionsHPOHP:0002719
- 6 of 20 reported patients
- SeizureHPOHP:0001250
- 6 of 20 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 5 of 20 reported patients
- Long eyelashesHPOHP:0000527
- 5 of 20 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 20 reported patients
- ObesityHPOHP:0001513
- 5 of 20 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.
- FBXO11HGNC:13590
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- PRMT9HGNC:25099
- Limited · Ambry Genetics · Autosomal recessive · 2018