Lowry Wood syndrome (LWS) is a rare autosomal recessive syndrome characterized by multiple epiphyseal dysplasia without spinal involvement and accompanied by microcephaly and intellectual disability. It has been reported that mutations in RNU4ATAC cause this syndrome. RNU4ATAC encodes small nuclear RNA U4atac, a component of the minor spliceosome that is required for the correct excision of the U12-dependent class of introns.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD24 Syndromes with skeletal anomalies as a major feature
H02871 Lowry-Wood syndrome
