microphthalmia, syndromic 12
Findings
No curated finding names microphthalmia, syndromic 12 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Syndromic microphthalmia-12 is a rare disease characterized by bilateral small eyeballs (microphthalmia), lungs that are too small (pulmonary hypoplasia), and a defect or hole in the diaphragm that allows the abdominal contents to move into the chest cavity (diaphragmatic hernia). Other symptoms may include: Severe global developmental delay with progressive motor impairment due to spasticity and/or uncontrolled repetitive muscular contractions (dystonia), with or without abnormal quick movements that resemble dancing (chorea), Defects of the cerebellum (Chiari type I malformation) Accumulation of cerebrospinal fluid inside the brain (hydrocephaly), Severe feeding difficulties, Mild facial dysmorphism with broad nasal root and tip, and a very small chin (micrognathia), Severe language delay, Wheelchair-bound. Syndromic microphthalmia-12 is caused by mutations in the RARB gene. There is no specific treatment for this syndrome.
Definition from the Mondo Disease Ontology (MONDO:0014229), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Neonatal death
HPO, annotations 2026-09-02
Features
9 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.
- Bicornuate uterusHPOHP:0000813
- 2 of 2 reported patients · Female
- Congenital diaphragmatic herniaHPOHP:0000776
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 1 of 1 reported patient
- Pulmonary hypoplasiaHPOHP:0002089
- 4 of 5 reported patients
- Intestinal malrotationHPOHP:0002566
- 2 of 7 reported patients
- CryptorchidismHPOHP:0000028
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.
- RARBHGNC:9865
- Definitive · ClinGen · Autosomal dominant · 2023
- Definitive · G2P · Autosomal dominant · 2019
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Baylor College of Medicine Research Center · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of
Other names
3 names
Resolves to: microphthalmia, syndromic 12
- Also called
- microphthalmia, syndromic type 12RARB syndromic microphthalmiasyndromic microphthalmia caused by mutation in RARB