COACH syndrome 3
MONDO:0030862Mondo
Findings
No curated finding names COACH syndrome 3 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
- Infantile onset
HPO, annotations 2026-09-02
Features
16 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
- 2 of 2 reported patients
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Molar tooth sign on MRIHPOHP:0002419
- 2 of 2 reported patients
- NephronophthisisHPOHP:0000090
- 2 of 2 reported patients
- Oculomotor apraxiaHPOHP:0000657
- 2 of 2 reported patients
- Renal insufficiencyHPOHP:0000083
- 2 of 2 reported patients
- Renal interstitial fibrosisHPOHP:0032948
- 2 of 2 reported patients
- Renal interstitial inflammationHPOHP:0032945
- 2 of 2 reported patients
- Renal tubular atrophyHPOHP:0000092
- 2 of 2 reported patients
- Stage 5 chronic kidney diseaseHPOHP:0003774
- 2 of 2 reported patients
Show the remaining 4
- Autistic behaviorHPOHP:0000729
- 1 of 2 reported patients
- Portal fibrosisHPOHP:0006580
- 1 of 2 reported patients
- PtosisHPOHP:0000508
- 1 of 2 reported patients
- StrabismusHPOHP:0000486
- 1 of 2 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: COACH syndrome 3
- Also called
- COACH3