This syndrome is characterized by severe immunodeficiency, osteopetrosis, lymphedema and anhidrotic ectodermal dysplasia.
Comprehensive, easy-to-understand information about this condition
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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