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

• MIM:618804

Ontology

Human Disease   ( DOID:0081272 )