Fanconi anemia complementation group L
Findings
No curated finding names Fanconi anemia complementation group L yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene.
Definition from the Mondo Disease Ontology (MONDO:0013566), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Absent radiusHPOHP:0003974
- 3 of 3 reported patients
- Absent thumbHPOHP:0009777
- 3 of 3 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- Cafe-au-lait spotHPOHP:0000957
- 1 of 1 reported patient
- Chromosomal breakage induced by crosslinking agentsHPOHP:0003221
- 1 of 1 reported patient
- Chromosome breakageHPOHP:0040012
- 3 of 3 reported patients
- Delayed CNS myelinationHPO
Show the remaining 17
- HypertelorismHPOHP:0000316
- 2 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 2 of 3 reported patients
- Tracheoesophageal fistulaHPOHP:0002575
- 2 of 3 reported patients
- Unilateral renal agenesisHPOHP:0000122
- 2 of 3 reported patients
- Aplasia of the uterusHPOHP:0000151
- 1 of 2 reported patients
- Anal atresiaHPOHP:0002023
- 1 of 3 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FANCLHGNC:20748
- Definitive · ClinGen · Autosomal recessive · 2020
- Definitive · G2P · Autosomal recessive · 2024
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
8 names
Resolves to: Fanconi anemia complementation group L
- Also called
- FANCLFANCL Fanconi anaemiaFANCL Fanconi anemiaFanconi anaemia caused by mutation in FANCLFanconi anaemia complementation group type LFanconi anemia caused by mutation in FANCLFanconi anemia complementation group type LFanconi Anemia, complementation group type 50