MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 11

General Information (adopted from Orphanet):

Synonyms, Signs: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GALNT2-RELATED
MDDGA11
Number of Symptoms 23
OrphanetNr:
OMIM Id: 615181
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000568) Microphthalmia 183 / 7739
2
(HPO:0000545) Myopia 286 / 7739
3
(HPO:0000609) Optic nerve hypoplasia 26 / 7739
4
(HPO:0000518) Cataract 454 / 7739
5
(HPO:0000618) Blindness 124 / 7739
6
(HPO:0000541) Retinal detachment 87 / 7739
7
(HPO:0001263) Global developmental delay 853 / 7739
8
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
9
(HPO:0003560) Muscular dystrophy 88 / 7739
10
(HPO:0006829) Severe muscular hypotonia 29 / 7739
11
(OMIM) Delayed psychomotor development, severe 14 / 7739
12
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
(HPO:0007260) Type II lissencephaly 13 / 7739
14
(HPO:0002350) Cerebellar cyst 14 / 7739
15
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
16
(HPO:0000238) Hydrocephalus 278 / 7739
17
(HPO:0007033) Cerebellar dysplasia 13 / 7739
18
(HPO:0002126) Polymicrogyria 64 / 7739
19
(OMIM) Frontotemporal leukoencephalopathy 1 / 7739
20
(OMIM) Severe cognitive impairment 1 / 7739
21
(OMIM) Lack of acquisition of motor milestones 1 / 7739
22
(OMIM) Decreased glycosylation of alpha-dystroglycan seen on muscle biopsy 1 / 7739
23
(HPO:0012110) Hypoplasia of the pons 16 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor ...
Clinical Description OMIM Stevens et al. (2013) reported 6 unrelated patients with MDDGA11. The phenotype was slightly variable, but overall very severe with brain involvement, consistent with a clinical diagnosis of WWS or MEB. The patients were identified from 2 cohorts ...
Molecular genetics OMIM In 6 unrelated patients with MDDGA11, Stevens et al. (2013) identified homozygous or compound heterozygous mutations in the B3GALNT2 gene (see, e.g., 610194.0001-610194.0006). The mutations were found by exome sequencing or Sanger sequencing. Most of the mutations resulted ...