biliary, renal, neurologic, and skeletal syndrome
MONDO:0859191Mondo
Findings
No curated finding names biliary, renal, neurologic, and skeletal 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 · Neonatal death
HPO, annotations 2026-09-02
Features
103 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.
- Anterior pituitary hypoplasiaHPOHP:0010627
- 1 of 1 reported patient
- Aqueductal stenosisHPOHP:0002410
- 1 of 1 reported patient
- Atrioventricular canal defectHPOHP:0006695
- 1 of 1 reported patient
- Conjugated hyperbilirubinemiaHPOHP:0002908
- 6 of 6 reported patients
- Diabetes insipidusHPOHP:0000873
- 1 of 1 reported patient
- Elevated circulating aspartate aminotransferase concentrationHPOHP:0031956
- 6 of 6 reported patients
- Elevated gamma-glutamyltransferase levelHPOHP:0030948
- 6 of 6 reported patients
- Fetal distressHPOHP:0025116
- 1 of 1 reported patient
- Frontal bossingHPOHP:0002007
- 1 of 1 reported patient
- Gastroesophageal refluxHPOHP:0002020
- 1 of 1 reported patient
- HepatomegalyHPOHP:0002240
- 6 of 6 reported patients
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
Show the remaining 91
- Intrahepatic bile duct dilatationHPOHP:0033149
- 1 of 1 reported patient
- JaundiceHPOHP:0000952
- 7 of 7 reported patients
- Joint hypermobilityHPOHP:0001382
- 1 of 1 reported patient
- Knee dislocationHPOHP:0004976
- 1 of 1 reported patient
- Left-to-right shuntHPOHP:0012382
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 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.
- IFT56HGNC:21882
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of