muscular dystrophy-dystroglycanopathy, type A
MONDO:0000171Mondo
Findings
No curated finding names muscular dystrophy-dystroglycanopathy, type A yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
50 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.
- Abnormal cerebellar vermis morphologyHPOHP:0002334
- Very frequent (80% to 99% of cases)
- Abnormal circulating aldolase concentrationHPOHP:0012400
- Very frequent (80% to 99% of cases)
- Abnormal circulating creatine kinase activityHPOHP:0040081
- Very frequent (80% to 99% of cases)
- Abnormal circulating lactate dehydrogenase concentrationHPOHP:0045040
- Very frequent (80% to 99% of cases)
- Abnormal cortical gyrationHPOHP:0002536
- Very frequent (80% to 99% of cases)
- Abnormal optic nerve morphologyHPOHP:0000587
- Very frequent (80% to 99% of cases)
- Abnormality of neuronal migrationHPOHP:0002269
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia involving the skeletal musculatureHPOHP:0001460
- Very frequent (80% to 99% of cases)
- AreflexiaHPOHP:0001284
- Very frequent (80% to 99% of cases)
- Cerebellar hypoplasiaHPOHP:0001321
- Very frequent (80% to 99% of cases)
- Chorioretinal dysplasiaHPOHP:0007731
- Very frequent (80% to 99% of cases)
- Global developmental delayHPOHP:0001263
- Very frequent (80% to 99% of cases)
Show the remaining 38
- HydrocephalusHPOHP:0000238
- Very frequent (80% to 99% of cases)
- HyporeflexiaHPOHP:0001265
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- LissencephalyHPOHP:0001339
- Very frequent (80% to 99% of cases)
- Metatarsus valgusHPOHP:0010508
- Very frequent (80% to 99% of cases)
Genes
14 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.
- B3GALNT2HGNC:28596
- Supportive · Orphanet · Autosomal recessive · 2021
- B4GAT1HGNC:15685
- Supportive · Orphanet · Autosomal recessive · 2021
- COL4A1HGNC:2202
- Supportive · Orphanet · Autosomal recessive · 2021
- CRPPAHGNC:37276
- Supportive · Orphanet · Autosomal recessive · 2021
- DAG1HGNC:2666
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (14)
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
Other names
5 names
Resolves to: muscular dystrophy-dystroglycanopathy, type A
- Also called
- hard syndromehydrocephalus-agyria-retinal dysplasia syndromeWalker-Warburg muscular dystrophyWalker-Warburg syndromeWWS