muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
MONDO:0014140Mondo
Findings
No curated finding names muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14 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 · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
22 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
- 8 of 8 reported patients
- Muscle weaknessHPOHP:0001324
- 8 of 8 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 8 reported patients
- MicrocephalyHPOHP:0000252
- 4 of 8 reported patients
- SeizureHPOHP:0001250
- 4 of 8 reported patients
- Cerebellar hypoplasiaHPOHP:0001321
- 3 of 7 reported patients
- CataractHPOHP:0000518
- 3 of 8 reported patients
- Decreased fetal movementHPOHP:0001558
- 3 of 8 reported patients
- Feeding difficultiesHPOHP:0011968
- 2 of 8 reported patients
- HypotoniaHPOHP:0001252
- 2 of 8 reported patients
- Inability to walkHPOHP:0002540
- 2 of 8 reported patients
- Poor head controlHPOHP:0002421
- 2 of 8 reported patients
Show the remaining 10
- Hypoplasia of the ponsHPOHP:0012110
- 1 of 7 reported patients
- Absent speechHPOHP:0001344
- 1 of 8 reported patients
- AtaxiaHPOHP:0001251
- 1 of 8 reported patients
- Cleft palateHPOHP:0000175
- 1 of 8 reported patients
- Difficulty climbing stairsHPOHP:0003551
- 1 of 8 reported patients
- OligohydramniosHPOHP:0001562
- 1 of 8 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.
- GMPPBHGNC:22932
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2019
Where it sits
Other names
1 name
Resolves to: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
- Also called
- muscle-eye-brain-GMPPB related