intellectual developmental disorder with impaired language and dysmorphic facies
MONDO:0032851Mondo
Findings
No curated finding names intellectual developmental disorder with impaired language 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
HPO, annotations 2026-09-02
Features
48 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 speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- EpicanthusHPOHP:0000286
- 3 of 4 reported patients
- Gait disturbanceHPOHP:0001288
- 3 of 4 reported patients
- HypermetropiaHPOHP:0000540
- 3 of 4 reported patients
- StrabismusHPOHP:0000486
- 3 of 4 reported patients
- Patent foramen ovaleHPOHP:0001655
- 2 of 3 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 2 reported patients · Male
- Feeding difficultiesHPOHP:0011968
- 2 of 4 reported patients
- Highly arched eyebrowHPOHP:0002553
- 2 of 4 reported patients
- HypertelorismHPOHP:0000316
- 2 of 4 reported patients
Show the remaining 36
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 4 reported patients
- HypotoniaHPOHP:0001252
- 2 of 4 reported patients
- Low-set earsHPOHP:0000369
- 2 of 4 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 4 reported patients
- MicropenisHPOHP:0000054
- 1 of 2 reported patients · Male
- Narrow palpebral fissureHPOHP:0045025
- 2 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.
- DDX6HGNC:2747
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of