muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9
MONDO:0014683Mondo
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A9 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
15 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
- 2 of 2 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 2 reported patients
- Increased variability in muscle fiber diameterHPOHP:0003557
- 2 of 2 reported patients
- PolymicrogyriaHPOHP:0002126
- 2 of 2 reported patients
- Poor head controlHPOHP:0002421
- 2 of 2 reported patients
- Retinal dystrophyHPOHP:0000556
- 2 of 2 reported patients
- VentriculomegalyHPOHP:0002119
- 2 of 2 reported patients
- BuphthalmosHPOHP:0000557
- 1 of 2 reported patients
Show the remaining 3
- CataractHPOHP:0000518
- 1 of 2 reported patients
- High myopiaHPOHP:0011003
- 1 of 2 reported patients
- LeukodystrophyHPOHP:0002415
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.
- DAG1HGNC:2666
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018