MUSCULAR DYSTROPHY, ADULT-ONSET, WITH LEUKOENCEPHALOPATHY

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 9
OrphanetNr:
OMIM Id: 253590
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:0001250) Seizures 1245 / 7739
2
 (HPO:0002066) Gait ataxia 327 / 7739
3
 (HPO:0003560) Muscular dystrophy 88 / 7739
4
 (HPO:0001324) Muscle weakness 859 / 7739
5
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
6
 (HPO:0002352) Leukoencephalopathy 32 / 7739
7
 (OMIM) Progressive spastic ataxic gait 1 / 7739
8
 (OMIM) Adult-onset, predominantly distal, muscle weakness 1 / 7739
9
 (OMIM) Leukoencephalopathy by CT and MRI 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: