thyrocerebrorenal syndrome
MONDO:0010128Mondo
Findings
No curated finding names thyrocerebrorenal syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Thyrocerebrorenal syndrome is characterized by renal, neurologic, thyroid disease, associated with thrombocytopenia. It has been described in a brother and his sister. Intelligence was normal. It is transmitted as an autosomal recessive trait.
Definition from the Mondo Disease Ontology (MONDO:0010128), read 2026-09-29. CC BY 4.0.
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.
- Abnormal appendicular muscle morphologyHPOHP:0009127
- Frequent (30% to 79% of cases)
- Euthyroid goiterHPOHP:0009798
- Frequent (30% to 79% of cases)
- MyoclonusHPOHP:0001336
- Frequent (30% to 79% of cases)
- NephritisHPOHP:0000123
- Frequent (30% to 79% of cases)
- Nonprogressive cerebellar ataxiaHPOHP:0002470
- Frequent (30% to 79% of cases)
- Renal insufficiencyHPOHP:0000083
- Frequent (30% to 79% of cases)
- SeizureHPOHP:0001250
- Frequent (30% to 79% of cases)
- Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
- Slurred speechHPOHP:0001350
- Frequent (30% to 79% of cases)
- ThrombocytopeniaHPOHP:0001873
- Frequent (30% to 79% of cases)
Reported absent (1)
- Intellectual disabilityHPOHP:0001249
Where it sits
- A kind of
Other names
3 names
Resolves to: thyrocerebrorenal syndrome
- Also called
- Cutler Bass Romshe syndromeCutler-Bass-Romshe syndromethyrocerebroretinal syndrome