Term Name: | lateral meningocele syndrome |
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Synonyms: | Lehman 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. |
Ontology: | Human Disease [DOID:0111343] ( DOID:0111343 ) |