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  2. Endocrine-cerebro-osteodysplasia syndrome

Endocrine-cerebro-osteodysplasia syndrome

Definition:

Endocrine-cerebro-osteodysplasia syndrome is a neonatal lethal recessive disorder found in an Old Order Amish pedigree. This syndrome comprises osteodysplasia, cerebral anomalies, and endocrine gland hypoplasia. A missense mutation in ICK encoding intestinal cell kinase has been reported in the disease.

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