Search Ontology:
Human Disease

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
Ontology
Human Disease   ( DOID:0111343 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
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