Disease #00499 (SMA1 (atrophy, muscular, spinal, type 1 (SMA-1, Werdnig-Hoffman disease, severe infantile acute)), OMIM:253300)
Official abbreviation |
SMA1 |
Name |
atrophy, muscular, spinal, type 1 (SMA-1, Werdnig-Hoffman disease, severe infantile acute) |
OMIM ID |
253300 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal recessive |
Individuals reported having this disease |
34 |
Phenotype entries for this disease |
33 |
Associated with 1 gene |
SMN1 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Date created |
2014-08-14 20:55:29 +02:00 (CEST) |
Date last edited |
2021-12-10 21:51:32 +01:00 (CET) |
Individuals
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