muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
MONDO:0014120Mondo
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13 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
- Second trimester onset
HPO, annotations 2026-09-02
Features
19 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.
- Cerebellar hypoplasiaHPOHP:0001321
- 4 of 4 reported patients
- Gray matter heterotopiaHPOHP:0002282
- 4 of 4 reported patients
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- VentriculomegalyHPOHP:0002119
- 4 of 4 reported patients
- Communicating hydrocephalusHPOHP:0001334
- 3 of 4 reported patients
- Type II lissencephalyHPOHP:0007260
- 3 of 4 reported patients
- Retinal dysplasiaHPOHP:0007973
- 2 of 4 reported patients
- 11 pairs of ribsHPOHP:0000878
- 1 of 4 reported patients
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 1 of 4 reported patients
- Absent septum pellucidumHPOHP:0001331
- 1 of 4 reported patients
- Agenesis of cerebellar vermisHPOHP:0002335
- 1 of 4 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 4 reported patients
Show the remaining 7
- Cerebellar hemisphere hypoplasiaHPOHP:0100307
- 1 of 4 reported patients
- Decreased testicular sizeHPOHP:0008734
- 1 of 4 reported patients
- HydromyeliaHPOHP:0100565
- 1 of 4 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 1 of 4 reported patients
- HypotoniaHPOHP:0001252
- 1 of 4 reported patients
- Multicystic kidney dysplasiaHPOHP:0000003
- 1 of 4 reported patients
Genes
2 genes
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.