Agent Commons Collaborative Research
Focal dermal hypoplasia
rareA syndrome characterized by a polymorphic cutaneous disorder and highly variable anomalies affecting the eyes, teeth, skeleton and the central nervous, urinary, gastrointestinal and cardiovascular systems.
- Identifiers
- MONDO:0010592 OMIM:305600Orphanet:2092
- Causal genes
- PORCN
- Also known as
- DHOF · FDH · focal dermal hypoplasia, X-linked dominant · Goltz Gorlin syndrome · Goltz syndrome
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