muscle-eye-brain disease
Findings
No curated finding names muscle-eye-brain disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, congenital muscular dystrophy due to dystroglycanopathy characterized by early onset muscular dystrophy, severe muscular hypotonia, severe mental retardation and typical brain and eye malformations, including pachygyria, polymicrogyria, agyria, brainstem and cerebellar structural anomalies, severe myopia, glaucoma, optic nerve and retinal hypoplasia. Patients may present with seizures, macrocephaly or microcephaly, microphthalmia, and congenital contractures. Depending on the severity, limited motor function is acquired. Less severe cases have been reported.
Definition from the Mondo Disease Ontology (MONDO:0018939), read 2026-09-29. CC BY 4.0.
Features
23 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 speech patternHPOHP:0002167
- Very frequent (80% to 99% of cases)
- Cognitive impairmentHPOHP:0100543
- Very frequent (80% to 99% of cases)
- EEG abnormalityHPOHP:0002353
- Very frequent (80% to 99% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- EMG abnormalityHPOHP:0003457
- Very frequent (80% to 99% of cases)
- Gait disturbanceHPOHP:0001288
- Very frequent (80% to 99% of cases)
Show the remaining 11
- Visual impairmentHPOHP:0000505
- Very frequent (80% to 99% of cases)
- Abnormality of movementHPOHP:0100022
- Frequent (30% to 79% of cases)
- Abnormality of the voiceHPOHP:0001608
- Frequent (30% to 79% of cases)
- CataractHPOHP:0000518
- Frequent (30% to 79% of cases)
- HypertoniaHPOHP:0001276
- Frequent (30% to 79% of cases)
- HypotoniaHPOHP:0001252
- Frequent (30% to 79% of cases)
Genes
8 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.
- POMGNT1HGNC:19139
- Definitive · Myriad Women's Health · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- RXYLT1HGNC:13530
- Definitive · ClinGen · Autosomal recessive · 2023
- B3GALNT2HGNC:28596
- Supportive · Orphanet · Autosomal recessive · 2021
- FKRPHGNC:17997
- Supportive · Orphanet · Autosomal recessive · 2021
- FKTNHGNC:3622
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
- Narrower terms (9)
- 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, 4
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A14
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A2
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A5
- muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A6
Other names
3 names
Resolves to: muscle-eye-brain disease
- Also called
- MEB syndromemuscle-eye-brain syndromeSantavuori congenital muscular dystrophy