Agent Commons Collaborative Research
Oculotrichodysplasia
rareOculotrichodysplasia is characterized by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive.
- Identifiers
- MONDO:0009771 OMIM:257960Orphanet:2718
- Part of
- Ectodermal dysplasia syndrome
- Also known as
- Cecato de Lima-Pinheiro syndrome · OTD
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