has material basis in disease has basis in autosomal recessive disease Sandestig-Stefanova syndrome MIM:618804 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. disease_ontology DOID:0081272 syndrome autosomal recessive inheritance gene loss_of_function_variant