MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 2

General Information (adopted from Orphanet):

Synonyms, Signs: MDDGA2
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMT2-RELATED
Number of Symptoms 51
OrphanetNr:
OMIM Id: 613150
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:0000568) Microphthalmia 183 / 7739
2
(HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
3
(HPO:0000158) Macroglossia 119 / 7739
4
(HPO:0002084) Encephalocele rare [HPO:skoehler] 70 / 7739
5
(HPO:0011478) True anophthalmia 17 / 7739
6
(HPO:0000204) Cleft upper lip rare [HPO:skoehler] 193 / 7739
7
(HPO:0000252) Microcephaly 832 / 7739
8
(HPO:0100335) Non-midline cleft lip 12 / 7739
9
(HPO:0000528) Anophthalmia 42 / 7739
10
(HPO:0008499) High-grade hypermetropia 14 / 7739
11
(HPO:0000501) Glaucoma 180 / 7739
12
(HPO:0000540) Hypermetropia 99 / 7739
13
(HPO:0000518) Cataract 454 / 7739
14
(HPO:0000557) Buphthalmos 16 / 7739
15
(HPO:0000659) Peters anomaly 10 / 7739
16
(HPO:0000545) Myopia 286 / 7739
17
(HPO:0009917) Persistent pupillary membrane rare [HPO:skoehler] 6 / 7739
18
(HPO:0002187) Intellectual disability, profound 44 / 7739
19
(HPO:0001250) Seizures 1245 / 7739
20
(HPO:0001327) Photomyoclonic seizures 125 / 7739
21
(HPO:0010864) Intellectual disability, severe 120 / 7739
22
(HPO:0002650) Scoliosis 705 / 7739
23
(HPO:0003306) Spinal rigidity 30 / 7739
24
(HPO:0002803) Congenital contracture 45 / 7739
25
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
26
(HPO:0006829) Severe muscular hypotonia 29 / 7739
27
(HPO:0003712) Skeletal muscle hypertrophy 42 / 7739
28
(HPO:0003720) Generalized muscle hypertrophy 8 / 7739
29
(HPO:0003560) Muscular dystrophy 88 / 7739
30
(HPO:0100293) Muscle fiber hypertrophy 6 / 7739
31
(OMIM) Flattening of the pons 3 / 7739
32
(HPO:0007033) Cerebellar dysplasia 13 / 7739
33
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
34
(OMIM) Cobblestone lissencephaly, type II 3 / 7739
35
(HPO:0001425) Heterogeneous 132 / 7739
36
(OMIM) Smooth, thin cortical mantle (WWS) 1 / 7739
37
(HPO:0007370) Aplasia/Hypoplasia of the corpus callosum rare [HPO:skoehler] 180 / 7739
38
(HPO:0002365) Hypoplasia of the brainstem 41 / 7739
39
(HPO:0003812) Phenotypic variability 129 / 7739
40
(HPO:0007260) Type II lissencephaly 13 / 7739
41
(HPO:0002350) Cerebellar cyst 14 / 7739
42
(OMIM) Muscle biopsy shows decreased glycosylation of alpha-dystroglycan 9 / 7739
43
(HPO:0001302) Pachygyria 60 / 7739
44
(OMIM) Diffuse white matter changes (MEB) 1 / 7739
45
(HPO:0002126) Polymicrogyria 64 / 7739
46
(OMIM) Aplasia of the corpus callosum (WWS) Encephalocele (1 patient, MEB) 1 / 7739
47
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
48
(OMIM) Pachygyria with preferential frontoparietal involvement (MEB) 2 / 7739
49
(HPO:0000238) Hydrocephalus 278 / 7739
50
(HPO:0002119) Ventriculomegaly 253 / 7739
51
(OMIM) Periventricular white matter changes 7 / 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 an autosomal recessive disorder with characteristic brain and eye malformations, ...
Clinical Description OMIM Historically, the most severe forms of the dystroglycanopathies were described as Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB); these designations have been retained here when used in the literature.

- POMT2-Related Walker-Warburg Syndrome

Van ...

Molecular genetics OMIM Using a candidate gene approach combined with homozygosity mapping, van Reeuwijk et al. (2005) found possible linkage to the POMT2 locus in 6 of 17 unrelated families with WWS. Sequencing of the POMT2 gene in those 6 families ...