DO_rare_slim disease has basis in autosomal recessive congenital ichthyosis autosomal recessive congenital ichthyosis 4B ICD10CM:Q80.4 ARCI4B MIM:242500 disease_ontology DOID:0060713 ORDO:457 An autosomal recessive congenital ichthyosis characterized by severe neonatal ichthyosis with bilateral ectropion and eclabium, flattened and rudimentary nose and ears, constricting bands around the extremities and frequently lethality during infancy that has_material_basis_in homozygous or compound heterozygous mutation in the ABCA12 gene on chromosome 2q35. harlequin ichthyosis harlequin type ichthyosis congenita harlequin type ichthyosis fetalis Abnormality of prenatal development or birth