Metadata | |
---|---|
ID | DOID:0111343 |
Name | lateral meningocele syndrome |
Definition | A syndrome characterized by facial anomalies, hyperextensibility, hypotonia, and meningocele-related neurologic dysfunction that has_material_basis_in heterozygous mutation in the NOTCH3 gene on chromosome 19p13.12. https://www.ncbi.nlm.nih.gov/pubmed/25394726 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
Lehman syndrome [EXACT] |
Parent Relationships |
is_a syndrome |