intellectual developmental disorder with speech delay, autism, and dysmorphic facies
MONDO:0032864Mondo
Findings
No curated finding names intellectual developmental disorder with speech delay, autism, and dysmorphic facies yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
40 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.
- Delayed ability to walkHPOHP:0031936
- 12 of 15 reported patients
- HypotoniaHPOHP:0001252
- 10 of 16 reported patients
- Autistic behaviorHPOHP:0000729
- 7 of 16 reported patients
- Prominent foreheadHPOHP:0011220
- 5 of 16 reported patients
- Deeply set eyeHPOHP:0000490
- 4 of 16 reported patients
- Malar flatteningHPOHP:0000272
- 4 of 16 reported patients
- Short philtrumHPOHP:0000322
- 4 of 16 reported patients
- StrabismusHPOHP:0000486
- 4 of 16 reported patients
- Tapered fingerHPOHP:0001182
- 3 of 16 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 12 reported patients
- Clinodactyly of the 5th fingerHPOHP:0004209
- 2 of 16 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 2 of 16 reported patients
Show the remaining 28
- DolichocephalyHPOHP:0000268
- 2 of 16 reported patients
- HypotelorismHPOHP:0000601
- 2 of 16 reported patients
- Mandibular prognathiaHPOHP:0000303
- 2 of 16 reported patients
- PlagiocephalyHPOHP:0001357
- 2 of 16 reported patients
- Small handHPOHP:0200055
- 2 of 16 reported patients
- Upslanted palpebral fissureHPOHP:0000582
- 2 of 16 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.
- CNOT3HGNC:7879
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Moderate · Ambry Genetics · Autosomal dominant · 2019
Where it sits
- A kind of