developmental delay, dysmorphic facies, and brain anomalies
MONDO:0957810Mondo
Findings
No curated finding names developmental delay, dysmorphic facies, and brain anomalies 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
- Congenital onset · Infantile onset · Neonatal onset
HPO, annotations 2026-09-02
Features
22 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.
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 3 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 2 of 3 reported patients
- ChoreaHPOHP:0002072
- 1 of 3 reported patients
- Deep philtrumHPOHP:0002002
- 1 of 3 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 3 reported patients
- Depressed nasal bridgeHPOHP:0005280
- 1 of 3 reported patients
- ExotropiaHPOHP:0000577
- 1 of 3 reported patients
- HypotoniaHPOHP:0001252
- 1 of 3 reported patients
- Low-set earsHPOHP:0000369
- 1 of 3 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 1 of 3 reported patients
Show the remaining 10
- Mandibular prognathiaHPOHP:0000303
- 1 of 3 reported patients
- MicrotiaHPOHP:0008551
- 1 of 3 reported patients
- Pes planusHPOHP:0001763
- 1 of 3 reported patients
- PtosisHPOHP:0000508
- 1 of 3 reported patients
- RetrognathiaHPOHP:0000278
- 1 of 3 reported patients
- Single transverse palmar creaseHPOHP:0000954
- 1 of 3 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.
- U2AF2HGNC:23156
- Strong · Ambry Genetics · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2024
Where it sits
- A kind of