brachycephaly, trichomegaly, and developmental delay
MONDO:0044311Mondo
Findings
No curated finding names brachycephaly, trichomegaly, and developmental delay 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
28 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.
- Depressed nasal bridgeHPOHP:0005280
- 2 of 2 reported patients
- EpicanthusHPOHP:0000286
- 2 of 2 reported patients
- Long eyelashesHPOHP:0000527
- 2 of 2 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Prominent fingertip padsHPOHP:0001212
- 2 of 2 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 2 of 2 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 2 reported patients
- Bifid uvulaHPOHP:0000193
- 1 of 2 reported patients
- Blue scleraeHPOHP:0000592
- 1 of 2 reported patients
- Brittle hairHPOHP:0002299
- 1 of 2 reported patients
- Flat occiputHPOHP:0005469
- 1 of 2 reported patients
- High palateHPOHP:0000218
- 1 of 2 reported patients
Show the remaining 16
- Highly arched eyebrowHPOHP:0002553
- 1 of 2 reported patients
- Low-set earsHPOHP:0000369
- 1 of 2 reported patients
- Motor delayHPOHP:0001270
- 1 of 2 reported patients
- Open mouthHPOHP:0000194
- 1 of 2 reported patients
- Overfolded helixHPOHP:0000396
- 1 of 2 reported patients
- Periorbital fullnessHPOHP:0000629
- 1 of 2 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.
- RPS23HGNC:10410
- Strong · G2P · Autosomal dominant · 2017
- Moderate · PanelApp Australia · Autosomal dominant · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2017
Where it sits
- A kind of