Phenotype #0000045725

Individual ID 00059218
Associated disease PN
Phenotype details poikiloderma on sun-exposed areas (arms, face and ears) and trunk; palmoplantar keratoderma; pachyonychia of the great toenails; photosensitivity; neutropenia; recurrent viral and bacterial infections; hepatosplenomegaly; nondescented or retractile testes; growth delay; elevated lactate dehydrogenase (>1000 U/L); transient thrombocytopenia; elevated ferritin (>1000 g/L)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 03y (3 years)
Age/Diagnosis 04y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Elisa Adele Colombo
Database submission license No license selected
Created by Elisa Adele Colombo
Date created 2016-03-03 15:43:38 +01:00 (CET)
Date last edited N/A

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