Disease #02214 (SMAX2 (atrophy, muscular, spinal, X-linked, type 2, infantile (SMAX-2, arthrogryposis multiplex congenita, distal, X-linked)), OMIM:301830)
Official abbreviation |
SMAX2 |
Name |
atrophy, muscular, spinal, X-linked, type 2, infantile (SMAX-2, arthrogryposis multiplex congenita, distal, X-linked) |
OMIM ID |
301830 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
X-linked recessive |
Individuals reported having this disease |
1 |
Phenotype entries for this disease |
1 |
Associated with 1 gene |
UBA1 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Individuals
|
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