muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An autosomal recessive muscular dystrophy caused by mutations in the POMT1 gene, encoding protein O-mannosyl-transferase 1. It is associated with characteristic brain and eye malformations, profound mental retardation, and early death.
Definition from the Mondo Disease Ontology (MONDO:0009364), read 2026-09-29. CC BY 4.0.
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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 speechHPOHP:0001344
- 1 of 1 reported patient
- AgyriaHPOHP:0031882
- 2 of 2 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 1 reported patient
- Corneal opacityHPOHP:0007957
- 1 of 1 reported patient
- CryptorchidismHPOHP:0000028
- 1 of 1 reported patient · Male
- Dandy-Walker malformationHPOHP:0001305
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
Show the remaining 12
- MicrophthalmiaHPOHP:0000568
- 1 of 1 reported patient
- Neonatal hypotoniaHPOHP:0001319
- 1 of 1 reported patient
- Retinal dysplasiaHPOHP:0007973
- 2 of 2 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Type II lissencephalyHPOHP:0007260
- 31 of 31 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 2 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.
- POMT1HGNC:9202
- Definitive · Ambry Genetics · Autosomal recessive · 2018
- Definitive · G2P · Autosomal recessive · 2019
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
Where it sits
Other names
2 names
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
- Also called
- muscle-eye-brain-POMT1 relatedmuscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) type A, 1