DISEASE: Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
Entry
H02815 Disease
Name
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
Description
Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome (OORS) is a rare multiple congenital anomaly syndrome. Although the clinical features show overlap with DOORS syndrome [DS:H02218], patients don't have deafness. It has been reported that mutations in PIGF cause this syndrome. PIGF encodes a protein that is involved in the GPI biosynthesis.
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
05 Endocrine, nutritional or metabolic diseases
Metabolic disorders
Inborn errors of metabolism
5C54 Inborn errors of glycosylation or other specified protein modification
H02815 Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome
