COACH Syndrome (Q25326623)

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a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.
  • Joubert syndrome with hepatic defect
  • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis
  • COACH SYNDROME
  • Joubert Syndrome With Congenital Hepatic Fibrosis
  • Gentile syndrome
  • JS-H
  • Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
  • COACH syndrome
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Language Label Description Also known as
English
COACH Syndrome
a rare autosomal recessive disorder characterised by Cerebellar vermis hypoplasia, Oligophrenia (developmental delay/mental retardation), Ataxia, Coloboma, and Hepatic fibrosis.
  • Joubert syndrome with hepatic defect
  • Cerebellar Vermis Hypo/Aplasia, Oligophrenia, Congenital Ataxia, Ocular Coloboma, and Hepatic Fibrosis
  • COACH SYNDROME
  • Joubert Syndrome With Congenital Hepatic Fibrosis
  • Gentile syndrome
  • JS-H
  • Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis
  • COACH syndrome

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