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Metadata
ID	DOID:0081272
Name	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. https://pubmed.ncbi.nlm.nih.gov/32021605/, https://pubmed.ncbi.nlm.nih.gov/36158057/
Xrefs	MIM:618804
Parent Relationships	is_a syndrome is_a autosomal recessive disease