Version: 8.0.0
Date: Tue Jan 28 2025
Sandestig-Stefanova syndrome
DOID:0081272
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

Sandestig-Stefanova syndrome

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.
Synonyms
None
Cross References
Parent Terms
Child Terms
None
Sources of Associations

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      Associated Models

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