hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature
MONDO:0957495Mondo
Findings
No curated finding names hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
27 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.
- AnemiaHPOHP:0001903
- 1 of 1 reported patient · Neonatal onset
- 1 of 2 reported patients
- Decreased circulating haptoglobin concentrationHPOHP:0020181
- 1 of 1 reported patient
- Decreased total neutrophil countHPOHP:0001875
- 1 of 1 reported patient · Neonatal onset
- 1 of 2 reported patients
- Elevated circulating creatinine concentrationHPOHP:0003259
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Hemolytic-uremic syndromeHPOHP:0005575
- 1 of 1 reported patient · Neonatal onset
- 2 of 2 reported patients
- High foreheadHPOHP:0000348
- 2 of 2 reported patients
- Hyperechogenic kidneysHPOHP:0004719
- 1 of 1 reported patient
- Long eyelashesHPOHP:0000527
- 1 of 1 reported patient · Congenital onset
- Prominent nasolabial foldHPOHP:0005272
- 2 of 2 reported patients
- RetrognathiaHPOHP:0000278
- 2 of 2 reported patients
- SchistocytosisHPOHP:0001981
- 2 of 2 reported patients
Show the remaining 15
- Short long boneHPOHP:0003026
- 1 of 1 reported patient · Antenatal onset
- 2 of 2 reported patients
- ThrombocytopeniaHPOHP:0001873
- 1 of 1 reported patient · Neonatal onset
- 2 of 2 reported patients
- Decreased total leukocyte countHPOHP:0001882
- 1 of 2 reported patients
- Decreased total lymphocyte countHPOHP:0001888
- 1 of 2 reported patients
- Disproportionate short statureHPOHP:0003498
- 1 of 2 reported patients
- Downturned corners of mouthHPOHP:0002714
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.
- C1GALT1C1HGNC:24338
- Limited · Ambry Genetics · X-linked · 2023
- Limited · ClinGen · X-linked · 2025
Where it sits
- A kind of