| 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/36158057/, https://pubmed.ncbi.nlm.nih.gov/32021605/ |
| Xrefs | |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some loss_of_function_variant has material basis in some autosomal recessive inheritance disease has basis in some gene |