| Metadata | |
|---|---|
| ID | DOID:0060713 |
| Name | autosomal recessive congenital ichthyosis 4B |
| 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. https://ghr.nlm.nih.gov/condition/harlequin-ichthyosis, https://www.ncbi.nlm.nih.gov/pubmed/21339420 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
ARCI4B [EXACT] harlequin ichthyosis [EXACT] harlequin type ichthyosis congenita [EXACT] harlequin type ichthyosis fetalis [EXACT] |
| Parent Relationships |