snijders blok-fisher syndrome
MONDO:0032830Mondo
Findings
No curated finding names snijders blok-fisher 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
20 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 speech and language developmentHPOHP:0000750
- 19 of 19 reported patients
- Global developmental delayHPOHP:0001263
- 19 of 19 reported patients
- Intellectual disabilityHPOHP:0001249
- 10 of 10 reported patients
- DroolingHPOHP:0002307
- 9 of 14 reported patients
- Generalized hypotoniaHPOHP:0001290
- 10 of 18 reported patients
- Autistic behaviorHPOHP:0000729
- 7 of 19 reported patients
- Cupped earHPOHP:0000378
- 7 of 19 reported patients
- Protruding earHPOHP:0000411
- 7 of 19 reported patients
- Sleep disturbanceHPOHP:0002360
- 5 of 14 reported patients
- CryptorchidismHPOHP:0000028
- 3 of 11 reported patients · Congenital onset · Male
- Delayed CNS myelinationHPOHP:0002188
- 2 of 11 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 2 of 11 reported patients
Show the remaining 8
- EpicanthusHPOHP:0000286
- 2 of 19 reported patients
- Facial hypotoniaHPOHP:0000297
- 2 of 19 reported patients
- Postural instabilityHPOHP:0002172
- 2 of 19 reported patients
- SeizureHPOHP:0001250
- 2 of 19 reported patients
- Hypoplasia of the olfactory bulbHPOHP:0040326
- 1 of 11 reported patients
- ChoreoathetosisHPOHP:0001266
- 1 of 19 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.
- POU3F3HGNC:9216
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Ambry Genetics · Autosomal dominant · 2019
- Strong · Illumina · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of