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cataract - congenital heart disease - neural tube defect syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Cataract-congenital heart disease-neural tube defect syndrome is a multiple congenital anomaly syndrome characterized by sacral neural tube defects resulting in tethered cord, atrial and/or ventricular septal heart defects (that are detected in infancy), bilateral, symmetrical hyperopia, rapidly progressive early childhood cataracts, bilateral aphakic glaucoma, and abnormal facial features (low frontal hairline, small ears, short philtrum, prominent, widely spaced central incisors, and micrognathia). hypotonia, growth and developmental delay, seizures, and joint limitation are also reported.
Mondo Term and Equivalent IDs
MONDO:0011995:  cataract - congenital heart disease - neural tube defect syndrome
MESH:C564271: 
Orphanet:314993: 
UMLS:C1842363: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found