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Metadata
ID DOID:0090007
Name immunodeficiency-centromeric instability-facial anomalies syndrome
Definition A syndrome characterized by immunodeficiency, rearrangements in the vicinity of the centromeres of chromosomes 1, 9, and 16 and facial anomalies in most cases.
https://www.ncbi.nlm.nih.gov/pubmed/17893117, https://www.ncbi.nlm.nih.gov/pubmed/26216346
Xrefs

ICD10CM:D84.8

MIM:PS242860

ORDO:2268

Subsets

DO_rare_slim

Synonyms

ICF syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

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