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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

GARD:9873

MESH:C537878

MIM:130720

ORDO:2789

UMLS_CUI:C1851710

Subsets

DO_rare_slim

Synonyms

Lehman syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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