has characteristic has characteristic cataract - congenital heart disease - neural tube defect syndrome https://github.com/monarch-initiative/mondo/issues/4069 https://www.malacards.org/card/cataract_congenital_heart_disease_neural_tube_defect_syndrome_2 https://www.malacards.org/card/craniofacial_abnormalities_cataracts_congenital_heart_disease_sacral_neural_tube_defects_and_growth_and_developmental_retardation Orphanet:314993 GARD:0017440 MEDGEN:330832 craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation MONDO:0011995 OMIM:608227 MESH:C564271 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. UMLS:C1842363 congenital disorder of development or morphogenesis