Sandestig-Stefanova syndrome (SANDSTEF) is an autosomal recessive developmental syndrome characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis. This syndrome is caused by mutations in the NUP188 gene, which is a part of the large nuclear pore complexes (NPCs).
Category
Congenital malformation
Brite
Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
Multiple developmental anomalies or syndromes
LD2Y Other specified multiple developmental anomalies or syndromes
H02821 Sandestig-Stefanova syndrome
