MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 12

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 25
OrphanetNr:
OMIM Id: 615249
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
 (HPO:0000568) Microphthalmia 183 / 7739
2
 (HPO:0001090) Large eyes 20 / 7739
3
 (HPO:0000252) Microcephaly 832 / 7739
4
 (HPO:0000546) Retinal degeneration 61 / 7739
5
 (HPO:0007663) Reduced visual acuity 100 / 7739
6
 (HPO:0000589) Coloboma 47 / 7739
7
 (HPO:0000518) Cataract 454 / 7739
8
 (HPO:0000505) Visual impairment 297 / 7739
9
 (HPO:0000407) Sensorineural hearing impairment rare [HPO:skoehler] 524 / 7739
10
 (HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
11
 (HPO:0002465) Poor speech 31 / 7739
12
 (HPO:0001263) Global developmental delay 853 / 7739
13
 (HPO:0001371) Flexion contracture 220 / 7739
14
 (HPO:0002650) Scoliosis 705 / 7739
15
 (HPO:0011968) Feeding difficulties 240 / 7739
16
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
17
 (HPO:0002747) Respiratory insufficiency due to muscle weakness 48 / 7739
18
 (HPO:0001319) Neonatal hypotonia 101 / 7739
19
 (HPO:0003560) Muscular dystrophy 88 / 7739
20
 (HPO:0002421) Poor head control 23 / 7739
21
 (HPO:0001274) Agenesis of corpus callosum rare [HPO:skoehler] 142 / 7739
22
 (HPO:0002365) Hypoplasia of the brainstem rare [HPO:skoehler] 41 / 7739
23
 (HPO:0007260) Type II lissencephaly rare [HPO:skoehler] 13 / 7739
24
 (HPO:0000238) Hydrocephalus rare [HPO:skoehler] 278 / 7739
25
 (HPO:0001321) Cerebellar hypoplasia rare [HPO:skoehler] 114 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: