hydrolethalus syndrome 2
MONDO:0013585Mondo
Findings
No curated finding names hydrolethalus syndrome 2 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any hydrolethalus syndrome in which the cause of the disease is a mutation in the KIF7 gene.
Definition from the Mondo Disease Ontology (MONDO:0013585), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
10 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.
- Molar tooth sign on MRIHPOHP:0002419
- 1 of 1 reported patient
- Postaxial hand polydactylyHPOHP:0001162
- 3 of 4 reported patients
- Preaxial foot polydactylyHPOHP:0001841
- 3 of 4 reported patients
- AnencephalyHPOHP:0002323
- 2 of 4 reported patients
- Cleft palateHPOHP:0000175
- 2 of 4 reported patients
- HydrocephalusHPOHP:0000238
- 2 of 4 reported patients
- Postaxial foot polydactylyHPOHP:0001830
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.
- KIF7HGNC:30497
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Moderate · Genomics England PanelApp · Autosomal recessive · 2021
Where it sits
Other names
3 names
Resolves to: hydrolethalus syndrome 2
- Also called
- hydrolethalus syndrome caused by mutation in KIF7hydrolethalus syndrome type 2KIF7 hydrolethalus syndrome