Meckel syndrome, type 5
MONDO:0012695Mondo
Findings
No curated finding names Meckel syndrome, type 5 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene.
Definition from the Mondo Disease Ontology (MONDO:0012695), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
9 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.
- AnencephalyHPOHP:0002323
- 3 of 3 reported patients
- Bile duct proliferationHPOHP:0001408
- 3 of 3 reported patients
- Cleft palateHPOHP:0000175
- 3 of 3 reported patients
- Cleft upper lipHPOHP:0000204
- 3 of 3 reported patients
- MicrophthalmiaHPOHP:0000568
- 3 of 3 reported patients
- Occipital encephaloceleHPOHP:0002085
- 3 of 3 reported patients
- Postaxial hand polydactylyHPOHP:0001162
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.
- RPGRIP1LHGNC:29168
- Definitive · G2P · Autosomal recessive · 2023
Where it sits
Other names
3 names
Resolves to: Meckel syndrome, type 5
- Also called
- Meckel syndrome caused by mutation in RPGRIP1LMKS5RPGRIP1L Meckel syndrome