| 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 autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |