LWS is a disease of the bones. Individuals affected show multiple bone anomalies and microcephaly (small head). Developmental delay (delay in learning skills compared to other children), intellectual disability, and eye involvement have also been reported.
RS presentation overlaps with LWS. Immunodeficiency (decreased ability to fight infections) and spine involvement are particular to RS.
MOPD1, also known as Taybi-Linder syndrome (TALS), is characterized by dwarfism, microcephaly (small head), intrauterine growth retardation and neurological abnormalities. Individuals affected often die in early childhood; MOPD1 is the most severe form of RNU4ATAC mutations.
RNU4ATAC