Source: DOID:0081272
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.
Genes: nup188 (Dre)...Nup188 (Dme)...Nup188 (Rno)...NUP188 (Sce)...Nup188 (Mmu)
Alleles: Nup188<10B> (Dme)...Nup188<6A> (Dme)