Alkuraya-Kucinskas syndrome
MONDO:0060631Mondo
Findings
No curated finding names Alkuraya-Kucinskas syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
5 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.
- Dandy-Walker malformationHPOHP:0001305
- 1 of 1 reported patient
- HydrocephalusHPOHP:0000238
- 1 of 1 reported patient
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Pleural effusionHPOHP:0002202
- 1 of 1 reported patient
- Talipes equinovarusHPOHP:0001762
- 1 of 1 reported patient
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.
- BLTP1HGNC:26953
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of