intellectual developmental disorder with autism and dysmorphic facies
MONDO:0859281Mondo
Findings
No curated finding names intellectual developmental disorder with autism and dysmorphic facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
20 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.
- Autistic behaviorHPOHP:0000729
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HypertelorismHPOHP:0000316
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- High palateHPOHP:0000218
- 3 of 4 reported patients
- Malar flatteningHPOHP:0000272
- 3 of 4 reported patients
- Open mouthHPOHP:0000194
- 3 of 4 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 2 of 4 reported patients
- MyopiaHPOHP:0000545
- 2 of 4 reported patients
- SeizureHPOHP:0001250
- 2 of 4 reported patients
- AmblyopiaHPOHP:0000646
- 1 of 4 reported patients
- AstigmatismHPOHP:0000483
- 1 of 4 reported patients
Show the remaining 8
- Bilateral ptosisHPOHP:0001488
- 1 of 4 reported patients
- Cleft palateHPOHP:0000175
- 1 of 4 reported patients
- Compulsive behaviorsHPOHP:0000722
- 1 of 4 reported patients
- EcholaliaHPOHP:0010529
- 1 of 4 reported patients
- Low-set earsHPOHP:0000369
- 1 of 4 reported patients
- Overlapping toeHPOHP:0001845
- 1 of 4 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.
- PDZD8HGNC:26974
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of