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autosomal recessive congenital ichthyosis 4B (DOID:0060713)
Alliance: disease page
Synonyms: ARCI4B; harlequin ichthyosis; harlequin type ichthyosis congenita; harlequin type ichthyosis fetalis
Alt IDs: OMIM:242500, ICD10CM:Q80.4, ORDO:457
Definition: 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.

Disease References using Mouse Models (8)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
03/18/2025
MGI 6.24 		The Jackson Laboratory