MUSCULAR HYPOPLASIA, CONGENITAL UNIVERSAL, OF KRABBE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr:
OMIM Id: 159100
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001324) Muscle weakness 859 / 7739
2
(HPO:0004303) Abnormality of muscle fibers 2 / 7739
3
(HPO:0009004) Hypoplasia of the musculature 7 / 7739
4
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
5
(OMIM) Histology shows excessively small muscle fibers 1 / 7739
6
(OMIM) Congenital generalized muscular hypoplasia 1 / 7739
7
(HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: