MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 5

General Information (adopted from Orphanet):

Synonyms, Signs: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, FKRP-RELATED
MDDGA5
Number of Symptoms 33
OrphanetNr:
OMIM Id: 613153
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:0000568) Microphthalmia 183 / 7739
2
 (HPO:0001305) Dandy-Walker malformation 79 / 7739
3
 (HPO:0007957) Corneal opacity 84 / 7739
4
 (HPO:0000541) Retinal detachment 87 / 7739
5
 (HPO:0000545) Myopia 286 / 7739
6
 (HPO:0000589) Coloboma 47 / 7739
7
 (HPO:0001270) Motor delay 322 / 7739
8
 (HPO:0002187) Intellectual disability, profound 44 / 7739
9
 (HPO:0001712) Left ventricular hypertrophy 76 / 7739
10
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
11
 (HPO:0002093) Respiratory insufficiency 410 / 7739
12
 (HPO:0003560) Muscular dystrophy 88 / 7739
13
 (HPO:0006829) Severe muscular hypotonia 29 / 7739
14
 (HPO:0003577) Congenital onset 133 / 7739
15
 (OMIM) Absence of the corpus callosum 5 / 7739
16
 (OMIM) Retinal pigmentary changes 1 / 7739
17
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
18
 (HPO:0002350) Cerebellar cyst 14 / 7739
19
 (OMIM) Roving eye movements 3 / 7739
20
 (HPO:0012110) Hypoplasia of the pons 16 / 7739
21
 (HPO:0007033) Cerebellar dysplasia 13 / 7739
22
 (OMIM) Absence of the cerebellar vermis 2 / 7739
23
 (HPO:0001321) Cerebellar hypoplasia 114 / 7739
24
 (HPO:0000238) Hydrocephalus 278 / 7739
25
 (HPO:0002119) Ventriculomegaly 253 / 7739
26
 (HPO:0002365) Hypoplasia of the brainstem 41 / 7739
27
 (HPO:0003819) Death in childhood 42 / 7739
28
 (HPO:0007260) Type II lissencephaly 13 / 7739
29
 (OMIM) Delayed motor development, severe 1 / 7739
30
 (OMIM) Pontine hypoplasia 8 / 7739
31
 (HPO:0002500) Abnormality of the cerebral white matter 73 / 7739
32
 (HPO:0001339) Lissencephaly 30 / 7739
33
 (HPO:0001302) Pachygyria 60 / 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.

- FKRP-Related Walker-Warburg Syndrome

Cormand ...
Molecular genetics OMIM In a patient with WWS previously reported by Cormand et al. (2001), Beltran-Valero de Bernabe et al. (2004) identified a homozygous mutation in the FKRP gene (C318Y; 606596.0017).

In a German patient with muscle-eye-brain disease, Beltran-Valero ...