MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 3

General Information (adopted from Orphanet):

Synonyms, Signs: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, POMGNT1-RELATED
MDDGA3
Number of Symptoms 71
OrphanetNr:
OMIM Id: 253280
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: Congenital onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
2
 (HPO:0000252) Microcephaly 832 / 7739
3
 (HPO:0000347) Micrognathia 426 / 7739
4
 (HPO:0003194) Short nasal bridge 2 / 7739
5
 (HPO:0011800) Midface retrusion 221 / 7739
6
 (HPO:0000272) Malar flattening 277 / 7739
7
 (HPO:0000568) Microphthalmia 183 / 7739
8
 (HPO:0000557) Buphthalmos 16 / 7739
9
 (HPO:0007973) Retinal dysplasia 27 / 7739
10
 (HPO:0000501) Glaucoma 180 / 7739
11
 (HPO:0008012) Congenital myopia 2 / 7739
12
 (HPO:0007770) Hypoplasia of the retina 3 / 7739
13
 (HPO:0001105) Retinal atrophy 10 / 7739
14
 (HPO:0000556) Retinal dystrophy 65 / 7739
15
 (HPO:0000545) Myopia 286 / 7739
16
 (HPO:0000485) Megalocornea 26 / 7739
17
 (HPO:0000486) Strabismus 576 / 7739
18
 (HPO:0007759) Opacification of the corneal stroma 77 / 7739
19
 (HPO:0008045) Enlarged flash visual evoked potentials 1 / 7739
20
 (HPO:0000648) Optic atrophy 238 / 7739
21
 (HPO:0000518) Cataract 454 / 7739
22
 (HPO:0000546) Retinal degeneration 61 / 7739
23
 (HPO:0007731) Chorioretinal dysplasia 16 / 7739
24
 (HPO:0000589) Coloboma 47 / 7739
25
 (HPO:0000654) Decreased light- and dark-adapted electroretinogram amplitude 17 / 7739
26
 (HPO:0000550) Undetectable electroretinogram 25 / 7739
27
 (HPO:0007957) Corneal opacity 84 / 7739
28
 (HPO:0007738) Uncontrolled eye movements 3 / 7739
29
 (HPO:0001135) Chorioretinal dystrophy 18 / 7739
30
 (HPO:0000639) Nystagmus 555 / 7739
31
 (HPO:0002353) EEG abnormality 188 / 7739
32
 (HPO:0001336) Myoclonus 115 / 7739
33
 (HPO:0011344) Severe global developmental delay 46 / 7739
34
 (HPO:0001250) Seizures 1245 / 7739
35
 (HPO:0001257) Spasticity 251 / 7739
36
 (HPO:0010864) Intellectual disability, severe 120 / 7739
37
 (HPO:0002187) Intellectual disability, profound 44 / 7739
38
 (HPO:0000980) Pallor 52 / 7739
39
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
40
 (HPO:0001290) Generalized hypotonia 51 / 7739
41
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
42
 (HPO:0003560) Muscular dystrophy 88 / 7739
43
 (HPO:0001324) Muscle weakness 859 / 7739
44
 (HPO:0003324) Generalized muscle weakness 48 / 7739
45
 (OMIM) Chorioectopia 1 / 7739
46
 (OMIM) Pallor of optic discs 1 / 7739
47
 (OMIM) Muscle biopsy shows decreased glycosylation of alpha-dystroglycan 9 / 7739
48
 (HPO:0001425) Heterogeneous 132 / 7739
49
 (OMIM) White matter changes 7 / 7739
50
 (HPO:0001302) Pachygyria 60 / 7739
51
 (OMIM) Brainstem concavity 1 / 7739
52
 (HPO:0003812) Phenotypic variability 129 / 7739
53
 (OMIM) Choioretinal atrophy 1 / 7739
54
 (OMIM) Lack of motor development 3 / 7739
55
 (OMIM) Complete or partial absence of the corpus callosum 2 / 7739
56
 (OMIM) Cobblestone lissencephaly, type II 3 / 7739
57
 (HPO:0000238) Hydrocephalus 278 / 7739
58
 (OMIM) Decreased or absent electroretinogram (ERG) 1 / 7739
59
 (OMIM) Flattening of the pons 3 / 7739
60
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
61
 (OMIM) Micrognathia, mild 8 / 7739
62
 (HPO:0002126) Polymicrogyria 64 / 7739
63
 (HPO:0007260) Type II lissencephaly 13 / 7739
64
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
65
 (HPO:0002119) Ventriculomegaly 253 / 7739
66
 (HPO:0007033) Cerebellar dysplasia 13 / 7739
67
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
68
 (HPO:0002350) Cerebellar cyst 14 / 7739
69
 (HPO:0003577) Congenital onset 133 / 7739
70
 (OMIM) Disorganized brain cytoarchitecture 2 / 7739
71
 (OMIM) Anterior chamber dysgenesis 2 / 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.

- Early Descriptions of Muscle-Eye-Brain Disease ...
Molecular genetics OMIM Yoshida et al. (2001) demonstrated that loss-of-function mutations in the POMGNT1 gene (606822.0001-606822.0006) are responsible for MEB.

In 2 sibs with MEB disease, Vervoort et al. (2004) identified compound heterozygosity for 2 mutations in the POMGNT1 ...
Population genetics OMIM Diesen et al. (2004) identified a splice site mutation in intron 17 of the POMGNT1 gene (606822.0002) as a founder mutation in the Finnish population; it was present in 18 of 19 Finnish MEB patients. Phenotypic variability was ...