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Human Disease
Sandestig-Stefanova syndrome
- Term ID
- DOID:0081272
- Synonyms
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- 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. (2)
- References
- Ontology
- Human Disease ( DOID:0081272 )
- is a type of
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