Term Name:	Sandestig-Stefanova syndrome
Synonyms:
Definition:	A syndrome that is characterized by microcephaly, trigonocephaly, congenital cataracts, microphthalmia, facial findings, camptodactyly, periventricular white matter loss, thin corpus callosum, delayed myelination, and poor prognosis and that has_material_basis_in homozygous mutation in the NUP188 gene on chromosome 9q34.
Ontology:	Human Disease [DOID:0081272]   ( DOID:0081272 )