Jawad Syndrome (JWDS)

Jawad Syndrome, also known as kelly syndrome, is related to microcephaly and radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema. An important gene associated with Jawad Syndrome is RBBP8 (RB Binding Protein 8, Endonuclease), and among its related pathways/superpathways is Cell Cycle, Mitotic. Affiliated tissues include skin and bone marrow, and related phenotypes are intellectual disability and sloping forehead