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Human Disease

Sandestig-Stefanova syndrome

Term ID
DOID:0081272
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. (2)
References
Ontology
Human Disease   ( DOID:0081272 )
Relationships
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Genes Involved
Zebrafish Models