Faundes-Banka syndrome
MONDO:0859163Mondo
Findings
No curated finding names Faundes-Banka syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Antenatal onset
HPO, annotations 2026-09-02
Features
39 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.
- Broad eyebrowHPOHP:0011229
- 5 of 7 reported patients
- EpicanthusHPOHP:0000286
- 5 of 7 reported patients
- MicrognathiaHPOHP:0000347
- 5 of 7 reported patients
- Primary microcephalyHPOHP:0011451
- 3 of 5 reported patients · Congenital onset
- Bulbous noseHPOHP:0000414
- 4 of 7 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 4 of 7 reported patients
- Thin upper lip vermilionHPOHP:0000219
- 4 of 7 reported patients
- Joint hypermobilityHPOHP:0001382
- 3 of 6 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 3 of 7 reported patients · Fetal onset
- Low-set earsHPOHP:0000369
- 3 of 7 reported patients
- Pes planusHPOHP:0001763
- 3 of 7 reported patients
- CryptorchidismHPOHP:0000028
- 1 of 3 reported patients · Male
Show the remaining 27
- Chronic constipationHPOHP:0012450
- 2 of 7 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 2 of 7 reported patients · Neonatal onset
- Premature thelarcheHPOHP:0010314
- 1 of 4 reported patients
- Autistic behaviorHPOHP:0000729
- 1 of 7 reported patients
- Cleft palateHPOHP:0000175
- 1 of 7 reported patients · Congenital onset
- Conductive hearing impairmentHPOHP:0000405
- 1 of 7 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.
- EIF5AHGNC:3300
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2023
Where it sits
- A kind of