MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 14

General Information (adopted from Orphanet):

Synonyms, Signs: WALKER-WARBURG SYNDROME OR MUSCLE-EYE-BRAIN DISEASE, GMPPB-RELATED
MDDGA14
Number of Symptoms 22
OrphanetNr:
OMIM Id: 615350
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:0000175) Cleft palate 349 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0000407) Sensorineural hearing impairment 524 / 7739
4
(HPO:0001344) Absent speech 57 / 7739
5
(HPO:0010864) Intellectual disability, severe 120 / 7739
6
(HPO:0001263) Global developmental delay 853 / 7739
7
(HPO:0001249) Intellectual disability 1089 / 7739
8
(HPO:0001251) Ataxia 413 / 7739
9
(HPO:0001562) Oligohydramnios 75 / 7739
10
(HPO:0011968) Feeding difficulties 240 / 7739
11
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
12
(HPO:0001324) Muscle weakness 859 / 7739
13
(HPO:0003560) Muscular dystrophy 88 / 7739
14
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
(OMIM) Retinal dysfunction 2 / 7739
16
(OMIM) Inability to walk unsupported 1 / 7739
17
(OMIM) Pontine hypoplasia 8 / 7739
18
(HPO:0001321) Cerebellar hypoplasia 114 / 7739
19
(HPO:0012110) Hypoplasia of the pons 16 / 7739
20
(OMIM) Increased muscle tone at birth 1 / 7739
21
(HPO:0003577) Congenital onset 133 / 7739
22
(OMIM) Hypoglycosylation of alpha-dystroglycan seen on muscle biopsy 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Carss et al. (2013) reported an 8-year-old Pakistani boy who presented at birth with increased muscle tone, microcephaly, cleft palate, and feeding difficulties. He later showed severe muscle weakness, delayed walking (only with support at age 3 years), ...
Molecular genetics OMIM In a Pakistani boy with MDDGA14, Carss et al. (2013) identified compound heterozygous mutations in the GMPPB gene (615320.0001 and 615320.0002). The mutations were identified by exome sequencing, confirmed by Sanger sequencing, and not found in large control ...