Birk-Barel syndrome
Findings
No curated finding names Birk-Barel syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Birk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).
Definition from the Mondo Disease Ontology (MONDO:0012856), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
HPO, annotations 2026-09-02
Features
44 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.
- Feeding difficulties in infancyHPOHP:0008872
- 4 of 4 reported patients · Infantile onset
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Narrow foreheadHPOHP:0000341
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- MicroretrognathiaHPOHP:0000308
- 13 of 19 reported patients
- Short philtrumHPOHP:0000322
- 13 of 19 reported patients
- Frequent (30% to 79% of cases)
- Broad nasal tipHPOHP:0000455
- Frequent (30% to 79% of cases)
Show the remaining 32
- Feeding difficultiesHPOHP:0011968
- Frequent (30% to 79% of cases)
- Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
- High, narrow palateHPOHP:0002705
- Frequent (30% to 79% of cases)
- Highly arched eyebrowHPOHP:0002553
- Frequent (30% to 79% of cases)
- HyperactivityHPOHP:0000752
- Frequent (30% to 79% of cases)
- Hypomimic faceHPOHP:0000338
- Frequent (30% to 79% of cases)
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.
- KCNK9HGNC:6283
- Strong · Illumina · Autosomal dominant · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Moderate · Ambry Genetics · Autosomal dominant · 2019
- Limited · G2P · Autosomal dominant · 2015
Where it sits
- A kind of
Other names
4 names
Resolves to: Birk-Barel syndrome
- Also called
- BIRK-Barel intellectual disability dysmorphism syndromeBIRK-Barel mental retardation dysmorphism syndromeintellectual disability-hypotonia-facial dysmorphism syndromeKCNK9 Imprinting Syndrome