intellectual developmental disorder with hypertelorism and distinctive facies
MONDO:0029143Mondo
Findings
No curated finding names intellectual developmental disorder with hypertelorism and distinctive 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
25 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 nasal tipHPOHP:0000455
- 4 of 4 reported patients
- Delayed early-childhood social milestone developmentHPOHP:0012434
- 3 of 3 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 4 of 4 reported patients
- Delayed gross motor developmentHPOHP:0002194
- 4 of 4 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- HypertelorismHPOHP:0000316
- 4 of 4 reported patients
- Long palpebral fissureHPOHP:0000637
- 4 of 4 reported patients
- Low-set earsHPOHP:0000369
- 4 of 4 reported patients
- Narrow jawHPOHP:0012801
- 4 of 4 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 4 of 4 reported patients
- Thick nasal alaeHPOHP:0009928
- 4 of 4 reported patients
Show the remaining 13
- Thin eyebrowHPOHP:0045074
- 4 of 4 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 4 of 4 reported patients
- High anterior hairlineHPOHP:0009890
- 3 of 4 reported patients
- Long philtrumHPOHP:0000343
- 3 of 4 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 3 of 4 reported patients
- Autistic behaviorHPOHP:0000729
- 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.
- CCNKHGNC:1596
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2018
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of