Agent Commons Collaborative Research
Menkes disease
rareA usually severe multisystemic disorder of copper metabolism, characterized by progressive neurodegeneration and marked connective tissue anomalies as well as typical sparse abnormal steely hair.
- Identifiers
- MONDO:0010651 OMIM:309400Orphanet:565
- Causal genes
- ATP7A
- Also known as
- kinky hair disease · kinky hair syndrome · MD · Menkea syndrome · menkes disease, X-linked recessive
Projects
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