Waardenburg syndrome 2F
MONDO:0030983Mondo
Findings
No curated finding names Waardenburg syndrome 2F yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
11 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.
- Blue iridesHPOHP:0000635
- 1 of 1 reported patient
- Cafe-au-lait spotHPOHP:0000957
- 1 of 1 reported patient
- Congenital sensorineural hearing impairmentHPOHP:0008527
- 1 of 1 reported patient
- Hypermelanotic maculeHPOHP:0001034
- 1 of 1 reported patient
- Hypopigmentation of the skinHPOHP:0001010
- 7 of 7 reported patients
- TelecanthusHPOHP:0000506
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 5 of 6 reported patients
- Heterochromia iridisHPOHP:0001100
- 4 of 6 reported patients
- White forelockHPOHP:0002211
- 3 of 6 reported patients
- White hairHPOHP:0011364
- 3 of 7 reported patients
- Premature graying of hairHPOHP:0002216
- 2 of 6 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.
- KITLGHGNC:6343
- Limited · Ambry Genetics · Autosomal recessive · 2024
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2022
Where it sits
- A kind of
Other names
1 name
Resolves to: Waardenburg syndrome 2F
- Also called
- WS2F