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lateral meningocele syndrome
Summary
- Synonym
-
- 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.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0111343
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
Related Genes
