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lateral meningocele syndrome

Disease Summary
Associated Targets (1)
Tchem

1


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Uniprot Description A very rare skeletal disorder with facial anomalies, hypotonia and neurologic dysfunction due to meningocele, a protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column. LMNS facial features include hypertelorism and telecanthus, high arched eyebrows, ptosis, mid-facial hypoplasia, micrognathia, high and narrow palate, low-set ears and a hypotonic appearance. Additional variable features are connective tissue abnormalities, aortic dilation, a high-pitched nasal voice, wormian bones and osteolysis.
Mondo Term and Equivalent IDs
MONDO:0007537:  lateral meningocele syndrome
DOID:0111343: 
GARD:0009873: 
MESH:C537878: 
Orphanet:2789: 
UMLS:C1851710: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)