Term Name: lateral meningocele syndrome
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 )

Relationships
is a type of: autosomal dominant disease syndrome