lateral meningocele syndrome

Term ID

DOID:0111343

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. https://www.ncbi.nlm.nih.gov/pubmed/25394726

References

• GARD:9873
• MESH:C537878
• OMIM:130720
• ORDO:2789
• UMLS_CUI:C1851710

Ontology

Human Disease   ( DOID:0111343 )