MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 1

General Information (adopted from Orphanet):

Synonyms, Signs: HYDROCEPHALUS, AGYRIA, AND RETINAL DYSPLASIA
HARD SYNDROME
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT1-RELATED
MDDGA1
COD-MD SYNDROME
CEREBROOCULAR DYSPLASIA-MUSCULAR DYSTROPHY SYNDROME
Number of Symptoms 68
OrphanetNr:
OMIM Id: 236670
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000050) Hypoplastic male external genitalia 10 / 7739
2
 (HPO:0000110) Renal dysplasia 44 / 7739
3
 (HPO:0000113) Polycystic kidney dysplasia 75 / 7739
4
 (HPO:0000003) Multicystic kidney dysplasia 17 / 7739
5
 (HPO:0002085) Occipital encephalocele 20 / 7739
6
 (HPO:0000528) Anophthalmia 42 / 7739
7
 (HPO:0011478) True anophthalmia 17 / 7739
8
 (HPO:0100335) Non-midline cleft lip 12 / 7739
9
 (HPO:0000252) Microcephaly 832 / 7739
10
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
11
 (HPO:0000568) Microphthalmia 183 / 7739
12
 (HPO:0007291) Posterior fossa cyst 10 / 7739
13
 (HPO:0006888) Meningoencephalocele 3 / 7739
14
 (HPO:0000204) Cleft upper lip 193 / 7739
15
 (HPO:0000175) Cleft palate 349 / 7739
16
 (HPO:0007957) Corneal opacity 84 / 7739
17
 (HPO:0000557) Buphthalmos 16 / 7739
18
 (HPO:0000618) Blindness 124 / 7739
19
 (HPO:0000659) Peters anomaly 10 / 7739
20
 (HPO:0001135) Chorioretinal dystrophy 18 / 7739
21
 (HPO:0000501) Glaucoma 180 / 7739
22
 (HPO:0000589) Coloboma 47 / 7739
23
 (HPO:0007731) Chorioretinal dysplasia 16 / 7739
24
 (HPO:0001105) Retinal atrophy 10 / 7739
25
 (HPO:0000572) Visual loss 272 / 7739
26
 (HPO:0000556) Retinal dystrophy 65 / 7739
27
 (HPO:0007973) Retinal dysplasia 27 / 7739
28
 (HPO:0000485) Megalocornea 26 / 7739
29
 (HPO:0007901) Retinal malformation 2 / 7739
30
 (HPO:0000541) Retinal detachment 87 / 7739
31
 (HPO:0007899) Retinal nonattachment 10 / 7739
32
 (HPO:0000545) Myopia 286 / 7739
33
 (HPO:0007700) Anterior segment dysgenesis 9 / 7739
34
 (HPO:0000609) Optic nerve hypoplasia 26 / 7739
35
 (HPO:0000518) Cataract 454 / 7739
36
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
37
 (HPO:0008551) Microtia 98 / 7739
38
 (HPO:0002187) Intellectual disability, profound 44 / 7739
39
 (HPO:0001250) Seizures 1245 / 7739
40
 (HPO:0010864) Intellectual disability, severe 120 / 7739
41
 (HPO:0002803) Congenital contracture 45 / 7739
42
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
43
 (HPO:0003560) Muscular dystrophy 88 / 7739
44
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
45
 (HPO:0000238) Hydrocephalus 278 / 7739
46
 (OMIM) Complete or partial absence of the corpus callosum 2 / 7739
47
 (OMIM) Exophthalmia 3 / 7739
48
 (HPO:0002350) Cerebellar cyst 14 / 7739
49
 (OMIM) White matter changes 7 / 7739
50
 (OMIM) Cerebellar hypoplasia, severe (WWS) 1 / 7739
51
 (OMIM) Cobblestone lissencephaly, type II 3 / 7739
52
 (OMIM) Iris malformation or hypoplasia (WWS) 1 / 7739
53
 (OMIM) Disorganized brain cytoarchitecture 2 / 7739
54
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
55
 (OMIM) Muscle biopsy shows decreased glycosylation of alpha-dystroglycan 9 / 7739
56
 (HPO:0002126) Polymicrogyria 64 / 7739
57
 (OMIM) Pachygyria with preferential frontoparietal involvement (MEB) 2 / 7739
58
 (OMIM) Fused hemispheres (WWS) 1 / 7739
59
 (HPO:0007033) Cerebellar dysplasia 13 / 7739
60
 (OMIM) Hyperplastic primary vitreous (WWS) 1 / 7739
61
 (OMIM) Virtually no active movement at birth (WWS) 1 / 7739
62
 (OMIM) Flattening of the pons 3 / 7739
63
 (OMIM) Thin cortical mantle (WWS) 1 / 7739
64
 (HPO:0002119) Ventriculomegaly 253 / 7739
65
 (OMIM) Vitreoretinal dysgenesis (WWS) 1 / 7739
66
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
67
 (HPO:0001339) Lissencephaly 30 / 7739
68
 (OMIM) Virtual absence of pyramidal tracts (WWS) 1 / 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), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is a genetically heterogeneous autosomal recessive disorder with characteristic brain and ...
Clinical Description OMIM Historically, the most severe forms of the dystroglycanopathies were described as Walker-Warburg syndrome and muscle-eye-brain disease; these designations have been retained here when used in the literature.

- Early Descriptions of Walker-Warburg Syndrome

The ...
Molecular genetics OMIM By candidate gene analysis in combination with homozygosity mapping in 15 consanguineous families with WWS, Beltran-Valero de Bernabe et al. (2002) identified homozygous or compound heterozygous mutations in the POMT1 gene in 6 of 30 probands (see, e.g., ...