turnpenny-fry syndrome
MONDO:0032707Mondo
Findings
No curated finding names turnpenny-fry syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
34 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.
- Specific learning disabilityHPOHP:0001328
- 2 of 2 reported patients
- Satyr earHPOHP:0030676
- 11 of 13 reported patients
- Frontal bossingHPOHP:0002007
- 12 of 15 reported patients
- Prominent nasal tipHPOHP:0005274
- 10 of 13 reported patients
- Periorbital fullnessHPOHP:0000629
- 9 of 13 reported patients
- Narrow mouthHPOHP:0000160
- 7 of 13 reported patients
- MicrotiaHPOHP:0008551
- 8 of 15 reported patients
- Downslanted palpebral fissuresHPOHP:0000494
- 1 of 2 reported patients
- DroolingHPOHP:0002307
- 1 of 2 reported patients
- Joint hypermobilityHPOHP:0001382
- 1 of 2 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 2 reported patients
- Melanocytic nevusHPOHP:0000995
- 1 of 2 reported patients
Show the remaining 22
- Microdontia of primary teethHPOHP:0006347
- 1 of 2 reported patients
- Mild short statureHPOHP:0003502
- 1 of 2 reported patients
- Tapered fingerHPOHP:0001182
- 1 of 2 reported patients
- Long faceHPOHP:0000276
- 7 of 15 reported patients
- Conductive hearing impairmentHPOHP:0000405
- 6 of 13 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 6 of 13 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.
- PCGF2HGNC:12929
- Definitive · ClinGen · Autosomal dominant · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · G2P · Autosomal dominant · 2025
- Strong · Broad Center for Mendelian Genomics · Autosomal dominant · 2024
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
Where it sits
- A kind of