Kaya-Barakat-Masson syndrome
MONDO:0030878Mondo
Findings
No curated finding names Kaya-Barakat-Masson syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset · Infantile onset
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
- 6 of 6 reported patients
- DyskinesiaHPOHP:0100660
- 5 of 5 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 6 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- IrritabilityHPOHP:0000737
- 6 of 6 reported patients
- SpasticityHPOHP:0001257
- 6 of 6 reported patients
- Delayed ability to roll overHPOHP:0032989
- 5 of 6 reported patients
- Limb dystoniaHPOHP:0002451
- 5 of 6 reported patients
- MicrocephalyHPOHP:0000252
- 5 of 6 reported patients
- Axial hypotoniaHPOHP:0008936
- 4 of 6 reported patients
- ScoliosisHPOHP:0002650
- 2 of 6 reported patients
Show the remaining 8
- SeizureHPOHP:0001250
- 2 of 6 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 6 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 6 reported patients
- Cerebral visual impairmentHPOHP:0100704
- 1 of 6 reported patients
- CNS hypomyelinationHPOHP:0003429
- 1 of 6 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 6 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.
- YIF1BHGNC:30511
- Definitive · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
Where it sits
- A kind of
Other names
1 name
Resolves to: Kaya-Barakat-Masson syndrome
- Also called
- KABAMAS