Oculotrichodysplasia 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.
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ADULT syndrome
MONDO:0007072
autosomal dominant palmoplantar keratoderma and congenital alopecia
MONDO:0007083
ameloonychohypohidrotic syndrome
MONDO:0007095
ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
MONDO:0007124
anonychia with flexural pigmentation
MONDO:0007131
Böök syndrome
MONDO:0007207