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- Bbca4e415c4013856ef8b53fef4090dd0 hasDbXref "Orphanet:88643" @default.
- Bbca4e415c4013856ef8b53fef4090dd0 type Axiom @default.
- Bbca4e415c4013856ef8b53fef4090dd0 annotatedProperty IAO_0000115 @default.
- Bbca4e415c4013856ef8b53fef4090dd0 annotatedSource MONDO_0019506 @default.
- Bbca4e415c4013856ef8b53fef4090dd0 annotatedTarget "Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome is characterized by precocious obesity, congenital hypothyroidism, neonatal colitis, cardiac hypertrophy, craniosynostosis and developmental delay. It has been described in two brothers, one of whom died within the first month of life. The parents of the two children were nonconsanguineous and in good health, however, the pregnancies were complicated by a maternal HELLP syndrome (Haemolysis, Elevated Liver enzymes and Low Platelets). The mode of inheritance has not yet been clearly established." @default.