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- Bf17fec1397f0a1ce09a8802420e6b02e hasDbXref "Orphanet:1708" @default.
- Bf17fec1397f0a1ce09a8802420e6b02e type Axiom @default.
- Bf17fec1397f0a1ce09a8802420e6b02e annotatedProperty IAO_0000115 @default.
- Bf17fec1397f0a1ce09a8802420e6b02e annotatedSource MONDO_0015729 @default.
- Bf17fec1397f0a1ce09a8802420e6b02e annotatedTarget "Mosaic trisomy 16 is a rare chromosomal anomaly syndrome with a highly variable phenotype ranging from minor anomalies with normal development to intrauterine growth retardation, abnormal skin pigmentation, craniofacial and body asymmetry, cardiac (e.g. ventricular septal defect) and genital (e.g. hypospadias, cryptorchidism) anomalies, scoliosis and hearing loss to neonatal death. Additional features observed include skeletal malformations (e.g. clino/polydactyly, talipes), mild facial dysmorphism, and developmental delay." @default.