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GENATLAS PHENOTYPE
last update : 06-03-2009
Symbol ECO
Location 6p12.1
Name endocrine-cerebro-osteodysplasia
Corresponding gene ICK
Main clinical features
  • neonatal lethal disorder with multiple anomalies involving the endocrine, cerebral, and skeletal systems
  • holoprosencephaly, hypoplastic or absent corpus callosum, agenesis of the pituitary, and cerebral cortex malformations, midline cleft lip and palate, abnormal bone development manifesting as micromelia, bowing of the long bones, postaxial polydactyly, hypoplastic adrenal and pituitary glands, and ambiguous genitalia
  • Genetic determination autosomal recessive
    Function/system disorder endocrinology
    neurology
    neuromuscular
    Type disease
    Remark(s) R272Q mutation impairs nuclear localization and kinase activity (Lahiry 2008)