Disease #03322 (FANCO (Fanconi anemia, complementation group O (FANCO)), OMIM:613390)

Official abbreviation FANCO
Name Fanconi anemia, complementation group O (FANCO)
OMIM ID 613390
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 RAD51C
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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00024216 - - - M ? Pakistan - - - - - FANCO Bilateral radial hypoplasia Long, slim fingers with proximally placed thumbs Hypoplastic thenar eminences Bilateral cystic kidneys Duodenal web Anal/rectal atresia Mild hypothyroidism Undescended testes Small genitalia RAD51C RAD51C 2 1 Arleen D. Auerbach
00024217 - - Sister of IV-5 F ? Pakistan - - - - - FANCO Absent and vestigial thumb Severe congenital heart disease Hydronephrosis Imperforate anus RAD51C RAD51C 2 1 Arleen D. Auerbach
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