FANCONI ANEMIA, COMPLEMENTATION GROUP L

FANCL

http://purl.bioontology.org/ontology/OMIM/614083

FANCL

C3469528

2p16.1

PHF9

FANCL

http://purl.bioontology.org/ontology/OMIM/MTHU000514

http://purl.bioontology.org/ontology/OMIM/MTHU019169

http://purl.bioontology.org/ontology/OMIM/MTHU011564

http://purl.bioontology.org/ontology/OMIM/MTHU001305

http://purl.bioontology.org/ontology/OMIM/MTHU005779

http://purl.bioontology.org/ontology/OMIM/MTHU069209

http://purl.bioontology.org/ontology/OMIM/MTHU036869

http://purl.bioontology.org/ontology/OMIM/MTHU052238

http://purl.bioontology.org/ontology/OMIM/MTHU000064

http://purl.bioontology.org/ontology/OMIM/MTHU005818

http://purl.bioontology.org/ontology/OMIM/MTHU000511

http://purl.bioontology.org/ontology/OMIM/MTHU049263

http://purl.bioontology.org/ontology/OMIM/MTHU036682

http://purl.bioontology.org/ontology/OMIM/MTHU009946

http://purl.bioontology.org/ontology/OMIM/MTHU009058

http://purl.bioontology.org/ontology/OMIM/MTHU000185

http://purl.bioontology.org/ontology/OMIM/MTHU012400

http://purl.bioontology.org/ontology/OMIM/MTHU002499

http://purl.bioontology.org/ontology/OMIM/MTHU000263

http://purl.bioontology.org/ontology/OMIM/MTHU014131

http://purl.bioontology.org/ontology/OMIM/MTHU036342

http://purl.bioontology.org/ontology/OMIM/MTHU016674

Phenotype description, molecular basis known.

614083

3

pound

FANCONI ANEMIA, COMPLEMENTATION GROUP L

Caused by mutation in the FANCL gene (FANCL, 608111.0001) [MOLECULAR BASIS]

Highly variable phenotype [MISCELLANEOUS]

Four unrelated patients have been reported (last curated September 2015) [MISCELLANEOUS]

Two unrelated patients had multiple congenital anomalies and died in early infancy [MISCELLANEOUS]

T047