microphthalmia, syndromic 9
Findings
No curated finding names microphthalmia, syndromic 9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic microphthalmiae in which the cause of the disease is a mutation in the STRA6 gene. It is characterized by microphthalmia or anophthalmia, and variable features including including intellectual disability, pulmonary hypoplasia or agenesis, congenital diaphragmatic hernia or eventration and congenital heart disease.
Definition from the Mondo Disease Ontology (MONDO:0011010), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Neonatal death · Second trimester onset
HPO, annotations 2026-09-02
Features
34 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.
- AnophthalmiaHPOHP:0000528
- 3 of 3 reported patients
- Very frequent (80% to 99% of cases)
- Profound intellectual disabilityHPOHP:0002187
- 1 of 1 reported patient
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- MicrophthalmiaHPOHP:0000568
- Very frequent (80% to 99% of cases)
- BlepharophimosisHPOHP:0000581
- 2 of 3 reported patients
- Low-set earsHPOHP:0000369
- 2 of 3 reported patients
- Occasional (5% to 29% of cases)
Show the remaining 22
- Abnormal spleen morphologyHPOHP:0025408
- Occasional (5% to 29% of cases)
- Abnormality of the uterusHPOHP:0000130
- Occasional (5% to 29% of cases)
- Annular pancreasHPOHP:0001734
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the pancreasHPOHP:0100800
- Occasional (5% to 29% of cases)
- CryptorchidismHPOHP:0000028
- Occasional (5% to 29% of cases)
- Duodenal stenosisHPOHP:0100867
- Occasional (5% to 29% of cases)
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.
- STRA6HGNC:30650
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
9 names
Resolves to: microphthalmia, syndromic 9
- Also called
- anophthalmia-pulmonary hypoplasia syndromeclinical anophthalmia mild facial dysmorphism lung heart and diaphragm malformationsMatthew Wood syndromeMatthew-Wood syndromeMCOPS9microphthalmia syndromic 9pulmonary agenesis microphthalmi and diaphragmatic defectSpear syndromeSTRA6-related syndromic microphthalmia