has material basis in germline mutation in disease has feature USB1 neutropenia poikiloderma with neutropenia https://www.malacards.org/card/poikiloderma_with_neutropenia poikiloderma with neutropenia Clericuzio type Orphanet:221046 GARD:0004085 MEDGEN:388129 PN poikiloderma with neutropenia, Clericuzio type UMLS:C1858723 OMIM:604173 Clericuzio type poikiloderma with neutropenia NORD:2022 DOID:0060551 A skin disease characterized by poikiloderma, hyperkeratotic nails, generalized hyperkeratosis on palms and soles, neutropenia, short stature, and recurrent pulmonary infections. It has material basis in mutation in the C16ORF57 gene on chromosome 16q13. MONDO:0011405 NANDO:2200749 poikiloderma with neutropenia NCIT:C177535 constitutional neutropenia hereditary poikiloderma hereditary skin disorder