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Sandestig-Stefanova syndrome
Summary
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0081272
- Mondo Disease Ontology
- OMIM
