muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
MONDO:0013157Mondo
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5 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
- Congenital onset · Death in childhood
HPO, annotations 2026-09-02
Features
20 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 cerebral white matter morphologyHPOHP:0002500
- 1 of 1 reported patient
- Agenesis of cerebellar vermisHPOHP:0002335
- 1 of 1 reported patient
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- AgyriaHPOHP:0031882
- 1 of 1 reported patient
- Cerebellar cystHPOHP:0002350
- 1 of 1 reported patient
- ColobomaHPOHP:0000589
- 1 of 1 reported patient
- Corneal opacityHPOHP:0007957
- 1 of 1 reported patient
- Dandy-Walker malformationHPOHP:0001305
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
- HydrocephalusHPOHP:0000238
- 1 of 1 reported patient
- Hypoplasia of the brainstemHPOHP:0002365
- 1 of 1 reported patient
Show the remaining 8
- Hypoplasia of the ponsHPOHP:0012110
- 1 of 1 reported patient
- LissencephalyHPOHP:0001339
- 1 of 1 reported patient
- Low anterior hairlineHPOHP:0000294
- 1 of 1 reported patient
- MicrophthalmiaHPOHP:0000568
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- Simplified gyral patternHPOHP:0009879
- 1 of 1 reported patient
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.
- FKRPHGNC:17997
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Moderate · Ambry Genetics · Autosomal recessive · 2018
Where it sits
Other names
1 name
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
- Also called
- muscle-eye-brain-FKRP related