Variants in DIAPH1 associated with D-RD. (A) Pedigree diagrams demonstrating cosegregation of the DIAPH1 variants with sensorineural hearing impairment (black shading) and hematological abnormalities (red shading) in 5 pedigrees. The open symbols indicate unaffected pedigree members. The gray symbols indicate pedigree members with no data available. *Index cases. (B) Annotation of the 16 D-RD cases with Human Phenotype Ontology terms for bleeding symptoms. Red shading indicates the presence of the bleeding symptom. Gray shading indicates that a symptom was not applicable due to patient age or sex. (C) Representative May-Grünwald-Giemsa–stained peripheral blood smears from D-RD cases A-2, B-4, and C-9 representing each of the 3 observed DIAPH1 variants. Original magnification ×40. (D) Hematoxylin and eosin–stained bone marrow biopsy from D-RD case A-2 (R1213*). Granulopoiesis was reduced, with few examples of mature neutrophils. MKs were normal in number but generally small, with hypolobated nuclei (arrows). Original magnification ×100. V, variant DIAPH1 alleles; +, wild-type DIAPH1 alleles.