hypotonia-cystinuria syndrome
Findings
No curated finding names hypotonia-cystinuria syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare syndrome including neonatal and infantile hypotonia and failure to thrive, cystinuria type 1 and nephrolithiasis, growth retardation due to growth hormone deficiency, and minor facial dysmorphism.
Definition from the Mondo Disease Ontology (MONDO:0011669), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
30 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.
- Axial hypotoniaHPOHP:0008936
- 7 of 7 reported patients · Congenital onset
- Cystine crystalluriaHPOHP:0033067
- 7 of 7 reported patients
- CystinuriaHPOHP:0003131
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Delayed ability to walkHPOHP:0031936
- 7 of 7 reported patients
- Failure to thriveHPOHP:0001508
- 7 of 7 reported patients
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- 7 of 7 reported patients
Show the remaining 18
- Growth delayHPOHP:0001510
- Very frequent (80% to 99% of cases)
- Hypernasal speechHPOHP:0001611
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- Very frequent (80% to 99% of cases)
- Kidney stoneHPOHP:0000787
- Very frequent (80% to 99% of cases)
- PolyphagiaHPOHP:0002591
- Very frequent (80% to 99% of cases)
- PtosisHPOHP:0000508
- Very frequent (80% to 99% of cases)
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.
- PREPLHGNC:30228
- Strong · G2P · Autosomal recessive · 2016
Where it sits
Other names
4 names
Resolves to: hypotonia-cystinuria syndrome
- Also called
- cystinuria with mitochondrial diseaseHCShypotonia-cystinuria syndrome type 1hypotonia-cystinuria type 1 syndrome