MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION),TYPE B, 14

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, CONGENITAL, GMPPB-RELATED
MDDGB14
Number of Symptoms 37
OrphanetNr:
OMIM Id: 615351
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:0002058) Myopathic facies 26 / 7739
2
(HPO:0000252) Microcephaly 832 / 7739
3
(HPO:0010697) Anterior pyramidal cataract 22 / 7739
4
(HPO:0000486) Strabismus rare [HPO:skoehler] 576 / 7739
5
(HPO:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
6
(HPO:0000639) Nystagmus rare [HPO:skoehler] 555 / 7739
7
(HPO:0000518) Cataract rare [HPO:skoehler] 454 / 7739
8
(HPO:0001488) Bilateral ptosis 42 / 7739
9
(HPO:0001276) Hypertonia 317 / 7739
10
(HPO:0001249) Intellectual disability 1089 / 7739
11
(HPO:0001344) Absent speech 57 / 7739
12
(HPO:0001263) Global developmental delay 853 / 7739
13
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
14
(HPO:0001327) Photomyoclonic seizures 125 / 7739
15
(HPO:0006136) Bilateral postaxial polydactyly 30 / 7739
16
(HPO:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
17
(HPO:0001558) Decreased fetal movement 74 / 7739
18
(HPO:0011968) Feeding difficulties 240 / 7739
19
(HPO:0001657) Prolonged QT interval rare [HPO:skoehler] 33 / 7739
20
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
21
(HPO:0001252) Muscular hypotonia 990 / 7739
22
(HPO:0010547) Muscle flaccidity 466 / 7739
23
(HPO:0008947) Infantile muscular hypotonia 482 / 7739
24
(HPO:0003560) Muscular dystrophy 88 / 7739
25
(HPO:0003741) Congenital muscular dystrophy 22 / 7739
26
(HPO:0002421) Poor head control 23 / 7739
27
(HPO:0001324) Muscle weakness 859 / 7739
28
(OMIM) Delayed or absent independent walking 1 / 7739
29
(OMIM) Generalized muscle wasting 1 / 7739
30
(HPO:0003828) Variable expressivity 130 / 7739
31
(HPO:0001321) Cerebellar hypoplasia rare [HPO:skoehler] 114 / 7739
32
(OMIM) Left ventricular dilatation (1 patient) 5 / 7739
33
(OMIM) Muscle weakness, severe 3 / 7739
34
(OMIM) Dystrophic features seen on muscle biopsy 2 / 7739
35
(OMIM) Mental retardation, mild to severe 14 / 7739
36
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
37
(OMIM) Hypoglycosylation of alpha-dystroglycan seen on muscle biopsy 3 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MDDGB14 is an autosomal recessive congenital muscular dystrophy characterized by severe muscle weakness apparent in infancy and mental retardation. Some patients may have additional features, such as microcephaly, cardiac dysfunction, seizures, or cerebellar hypoplasia. It is part of ...
Clinical Description OMIM Carss et al. (2013) reported 4 unrelated patients, 2 of Mexican descent and 2 girls of southern Italian descent, with congenital muscular dystrophy with mental retardation. The patients presented between birth and 4 months of age with severe ...
Molecular genetics OMIM In 2 Mexican patients with MDDGB14, Carss et al. (2013) identified a homozygous mutation in the GMPPB gene (615320.0004). Two unrelated Italian girls with the disorder were compound heterozygous for mutations in the GMPPB gene (615320.0005 and 615320.0006). ...