Beck-Fahrner syndrome
MONDO:0032922Mondo
Findings
No curated finding names Beck-Fahrner syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
38 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.
- Delayed gross motor developmentHPOHP:0002194
- 10 of 10 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 9 of 9 reported patients
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Reduced social responsivenessHPOHP:0012760
- 6 of 6 reported patients
- Delayed fine motor developmentHPOHP:0010862
- 9 of 10 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 9 of 12 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 4 of 7 reported patients
- AnxietyHPOHP:0000739
- 3 of 6 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 3 of 6 reported patients
- BrachycephalyHPOHP:0000248
- 4 of 8 reported patients
Show the remaining 26
- EEG abnormalityHPOHP:0002353
- 4 of 8 reported patients
- Facial hypotoniaHPOHP:0000297
- 4 of 8 reported patients
- Long faceHPOHP:0000276
- 5 of 10 reported patients
- Open mouthHPOHP:0000194
- 4 of 8 reported patients
- Protruding earHPOHP:0000411
- 4 of 8 reported patients
- Long philtrumHPOHP:0000343
- 4 of 9 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.
- TET3HGNC:28313
- Definitive · ClinGen · Autosomal dominant · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2020
- Strong · G2P · Autosomal dominant · 2020
- Moderate · Ambry Genetics · Semidominant · 2020
- Moderate · Illumina · Semidominant · 2022
- Limited · ClinGen · Autosomal recessive · 2026
Where it sits
- A kind of