muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene.
Definition from the Mondo Disease Ontology (MONDO:0013835), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Death in infancy · Death in childhood
HPO, annotations 2026-09-02
Features
14 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- 6 of 6 reported patients
- HydrocephalusHPOHP:0000238
- 6 of 6 reported patients
- Type II lissencephalyHPOHP:0007260
- 6 of 6 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 5 of 6 reported patients
- CataractHPOHP:0000518
- 4 of 6 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 3 of 6 reported patients
- MicrophthalmiaHPOHP:0000568
Show the remaining 2
- Remnants of the hyaloid vascular systemHPOHP:0007968
- 1 of 6 reported patients
- Retinal detachmentHPOHP:0000541
- 1 of 6 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.
- CRPPAHGNC:37276
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
Where it sits
Other names
3 names
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
- Also called
- ISPD muscular dystrophy-dystroglycanopathy, type Amuscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPDWalker-Warburg syndrome or muscle-eye-brain disease, ISPD-related