Clinical Characteristics

LWS is a skeletal dysplasia. Individuals affected show multiple epiphyseal dysplasia and microcephaly. Developmental delay, intellectual disability, and eye involvement (nystagmus and retinal anomalies) have also been reported.

RS presentation overlaps with LWS. Immunodeficiency caused by antibody deficiency and spine involvement are particular to RS.

MOPD1, also known as Taybi-Linder syndrome (TALS), is characterized by dwarfism, microcephaly, intrauterine growth retardation and neurological abnormalities. Individuals affected often die in early childhood; MOPD1 is the most severe form of RNU4ATAC mutations.