syndromic microphthalmia type 5
Findings
No curated finding names syndromic microphthalmia type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Syndromic microphthalmia, type 5 is characterized by the association of a range of ocular anomalies (anophthalmia, microphthalmia and retinal abnormalities) with variable developmental delay and central nervous system malformations.
Definition from the Mondo Disease Ontology (MONDO:0012413), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
59 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.
- Absent pituitary stalkHPOHP:0034976
- 2 of 2 reported patients
- Anterior pituitary hypoplasiaHPOHP:0010627
- 5 of 5 reported patients
- Central hypothyroidismHPOHP:0011787
- 1 of 1 reported patient
- Chiari malformationHPOHP:0002308
- 1 of 1 reported patient
- Chorioretinal colobomaHPOHP:0000567
- 1 of 1 reported patient
- Cleft palateHPOHP:0000175
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
Show the remaining 47
- Gonadotropin deficiencyHPOHP:0008213
- 1 of 1 reported patient
- High hypermetropiaHPOHP:0008499
- 1 of 1 reported patient
- HypoglycemiaHPOHP:0001943
- 1 of 1 reported patient
- Hypoplastic optic chiasmHPOHP:0034311
- 1 of 1 reported patient
- Impaired growth-hormone response to insulin stimulation testHPOHP:0031079
- 3 of 3 reported patients
- Macular atrophyHPOHP:0007401
- 1 of 1 reported patient
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.
- OTX2HGNC:8522
- Definitive · G2P · Autosomal dominant · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2022
- Moderate · Ambry Genetics · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
5 names
Resolves to: syndromic microphthalmia type 5
- Also called
- MCOPS5microphthalmia, syndromic type 5OTX2 syndromic microphthalmiasyndromic microphthalmia caused by mutation in OTX2syndromic microphthalmia/anophthalmia due to OTX2 mutation