Disease #00507

Official abbreviation ARCI-4B
Name ichthyosis, congenital, autosomal recessive, type 4B (ARCI-4B, harlequin)
OMIM ID 242500
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene ABCA12
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Disease features -
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Individuals

1 entry on 1 page. Showing entry 1.
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00080801 - Trujillano et al., submitted unaffected heterozygous carrier mother - - - - - 0 - - ARCI-4B Ichthyosis, autosomal recessive 4B (harlequin) (OMIM:242500) ABCA12 ABCA12 2 1 Daniel Trujillano
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