Disease #03876 (FANCQ (Fanconi anemia, complementation group Q (FANCQ)), OMIM:615272)

Official abbreviation FANCQ
Name Fanconi anemia, complementation group Q (FANCQ)
OMIM ID 615272
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 2
Phenotype entries for this disease 2
Associated with 1 gene ERCC4
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

2 entries on 1 page. Showing entries 1 - 2.
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00020018 - PubMed: Bogliolo 2013 - F no - - - - - - FANCQ bilateral absent thumbs, microsomy, esophageal atresia, a ventrally translocated anus, dysplastic and low-set ears; Nodermatological abnormality such as skin hyperpigmentation, photosensitivity, sunlight-induced scarring, or atrophy; BMF at the age of 2 years ERCC4 ERCC4 2 1 Arleen D. Auerbach
00020019 - PubMed: Bogliolo 2013 - ? no - - - - - - FANCQ such as perinatal growth retardation, short stature, pronounced microcephaly, cafe¥-au-lait spots, an ostium-primum defect, biliary atresia with fibrosis of the liver, BMF;no spontaneous or UV-light-induced skin lesions ERCC4 ERCC4 2 1 Arleen D. Auerbach
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