craniofacial anomalies and anterior segment dysgenesis syndrome
MONDO:0013618Mondo
Findings
No curated finding names craniofacial anomalies and anterior segment dysgenesis syndrome 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
HPO, annotations 2026-09-02
Features
18 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.
- Abnormal pinna morphologyHPOHP:0000377
- 3 of 3 reported patients
- Anterior synechiae of the anterior chamberHPOHP:0011483
- 3 of 3 reported patients
- HypertelorismHPOHP:0000316
- 2 of 3 reported patients
- Reduced visual acuityHPOHP:0007663
- 2 of 3 reported patients
- Band keratopathyHPOHP:0000585
- 1 of 3 reported patients
- HeadacheHPOHP:0002315
- 1 of 3 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 3 reported patients
- Hypoplasia of the irisHPOHP:0007676
- 1 of 3 reported patients
- Nasofrontal encephaloceleHPOHP:0011818
- 1 of 3 reported patients
- Ocular hypertensionHPOHP:0007906
- 1 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 3 reported patients
- Posterior fossa cystHPOHP:0007291
- 1 of 3 reported patients
Show the remaining 6
- Severe sensorineural hearing impairmentHPOHP:0008625
- 1 of 3 reported patients
- Small pituitary glandHPOHP:0012506
- 1 of 3 reported patients
- VentriculomegalyHPOHP:0002119
- 1 of 3 reported patients
- VertigoHPOHP:0002321
- 1 of 3 reported patients
- Abnormal electroretinogramHPOHP:0000512
- Ocular anterior segment dysgenesisHPOHP:0007700
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.
- HGNC:12723HGNC:12723
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · G2P · Autosomal dominant · 2017
Where it sits
- A kind of