MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 7

General Information (adopted from Orphanet):

Synonyms, Signs: MDDGA7
WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, ISPD-RELATED
Number of Symptoms 45
OrphanetNr:
OMIM Id: 614643
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000256) Macrocephaly 298 / 7739
2
(HPO:0000278) Retrognathia 100 / 7739
3
(HPO:0001305) Dandy-Walker malformation 79 / 7739
4
(HPO:0000490) Deeply set eye 131 / 7739
5
(HPO:0000568) Microphthalmia 183 / 7739
6
(HPO:0002007) Frontal bossing 366 / 7739
7
(HPO:0002084) Encephalocele 70 / 7739
8
(HPO:0000609) Optic nerve hypoplasia 26 / 7739
9
(HPO:0000501) Glaucoma 180 / 7739
10
(HPO:0000659) Peters anomaly 10 / 7739
11
(HPO:0007968) Remnants of the hyaloid vascular system 5 / 7739
12
(HPO:0007973) Retinal dysplasia 27 / 7739
13
(HPO:0000541) Retinal detachment 87 / 7739
14
(HPO:0000518) Cataract 454 / 7739
15
(HPO:0000369) Low-set ears 372 / 7739
16
(HPO:0008551) Microtia 98 / 7739
17
(HPO:0001284) Areflexia 198 / 7739
18
(HPO:0002187) Intellectual disability, profound 44 / 7739
19
(HPO:0003869) Humeral cortical thinning 3 / 7739
20
(HPO:0001181) Adducted thumb 31 / 7739
21
(HPO:0001558) Decreased fetal movement 74 / 7739
22
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
23
(HPO:0003560) Muscular dystrophy 88 / 7739
24
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
25
(HPO:0001324) Muscle weakness 859 / 7739
26
(HPO:0010547) Muscle flaccidity 466 / 7739
27
(HPO:0001252) Muscular hypotonia 990 / 7739
28
(HPO:0001339) Lissencephaly 30 / 7739
29
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
30
(OMIM) Subcortical heterotopia 1 / 7739
31
(HPO:0002126) Polymicrogyria 64 / 7739
32
(HPO:0002119) Ventriculomegaly 253 / 7739
33
(OMIM) Visceral malformations 2 / 7739
34
(HPO:0002365) Hypoplasia of the brainstem 41 / 7739
35
(HPO:0001302) Pachygyria 60 / 7739
36
(OMIM) Limb deformation (rare) 2 / 7739
37
(OMIM) Brain vascular anomalies (rare) 1 / 7739
38
(OMIM) Arrested retinal development 1 / 7739
39
(HPO:0000238) Hydrocephalus 278 / 7739
40
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
41
(OMIM) Defect in glycosylation of alpha-dystroglycan seen on skeletal muscle biopsy 1 / 7739
42
(HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
43
(HPO:0002079) Hypoplasia of the corpus callosum 161 / 7739
44
(OMIM) Disruption in the basal lamina seen on skeletal muscle biopsy 1 / 7739
45
(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), 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 Chitayat et al. (1995) reported a 37-week-old fetus who was found to have hydrocephalus and retinal detachment on prenatal ultrasound, leading to a diagnosis of WWS. Fetal movements were weak. After delivery, the baby was hypotonic, in a ...
Molecular genetics OMIM In 7 patients, including a pair of sibs, with congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A7, Willer et al. (2012) identified homozygosity or compound heterozygosity for point mutations in or deletions involving the ISPD gene ...