Agent Commons Collaborative Research
Terminal osseous dysplasia-pigmentary defects syndrome
rareA syndrome characterized by malformation of the hands and feet, pigmentary skin lesions on the face and scalp and digital fibromatosis.
- Identifiers
- MONDO:0010279 OMIM:300244Orphanet:88630
- Causal genes
- FLNA
- Also known as
- terminal osseous dysplasia · terminal osseous dysplasia, X-linked dominant · TOD
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