(Q28024529)

English

autosomal recessive congenital ichthyosis 4A

autosomal recessive congenital ichthyosis characterized by generalized ichthyosis and ectropion that has material basis in homozygous or compound hetrezogyous mutation in the ABCA12 gene on chromosome 2q35

  • ARCI4A
  • ICD10CM:Q80.2
  • ICR2B
  • ORDO:313
  • ichthyosis congenita IIB
  • lamellar ichthyosis 2
  • Ichthyosis, Lamellar, 2
  • Ichthyosis Congenita 2B
  • ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A; ARCI4A
  • ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 4A
  • autosomal recessive congenital ichthyosis type 4A
  • Ichthyosis, Congenital, Autosomal Recessive type 4A
  • Ichthyosis, Lamellar, 2, Formerly

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