MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 13

General Information (adopted from Orphanet):

Synonyms, Signs: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, B3GNT1-RELATED
MDDGA13
Number of Symptoms 23
OrphanetNr:
OMIM Id: 615287
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000107) Renal cyst rare [HPO:skoehler] 126 / 7739
2
(HPO:0000110) Renal dysplasia rare [HPO:skoehler] 44 / 7739
3
(HPO:0008734) Decreased testicular size rare [HPO:skoehler] 105 / 7739
4
(HPO:0000046) Scrotal hypoplasia 54 / 7739
5
(HPO:0001305) Dandy-Walker malformation 79 / 7739
6
(HPO:0007973) Retinal dysplasia 27 / 7739
7
(HPO:0001250) Seizures 1245 / 7739
8
(HPO:0001263) Global developmental delay 853 / 7739
9
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
10
(HPO:0003560) Muscular dystrophy 88 / 7739
11
(HPO:0006829) Severe muscular hypotonia 29 / 7739
12
(HPO:0000238) Hydrocephalus 278 / 7739
13
(OMIM) Nodular heterotopia 4 / 7739
14
(OMIM) Muscle biopsy shows decreased glycosylation of alpha-dystroglycan 9 / 7739
15
(HPO:0003577) Congenital onset 133 / 7739
16
(HPO:0002365) Hypoplasia of the brainstem 41 / 7739
17
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
18
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
(OMIM) Early death 13 / 7739
20
(HPO:0002119) Ventriculomegaly 253 / 7739
21
(HPO:0001274) Agenesis of corpus callosum 142 / 7739
22
(HPO:0002539) Cortical dysplasia 19 / 7739
23
(HPO:0007260) Type II lissencephaly 13 / 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 a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain ...
Clinical Description OMIM Buysse et al. (2013) reported a family of East Indian descent in which 4 sibs had a clinical diagnosis of Walker-Warburg syndrome. Three pregnancies were terminated and 1 affected son died at 2 years of age. The living ...
Molecular genetics OMIM In 4 sibs of East Indian descent with congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, Buysse et al. (2013) identified homozygosity for 2 missense mutations in the B3GNT1 gene (605517.0001). The mutations, which were found by homozygosity ...