Kohlschutter-Tonz syndrome-like
MONDO:0030990Mondo
Findings
No curated finding names Kohlschutter-Tonz syndrome-like yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Death in adolescence
HPO, annotations 2026-09-02
Features
85 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.
- Absent speechHPOHP:0001344
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 21 of 22 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 21 of 23 reported patients
- Motor delayHPOHP:0001270
- 21 of 23 reported patients
- DysarthriaHPOHP:0001260
- 5 of 8 reported patients
- SeizureHPOHP:0001250
- 6 of 10 reported patients
- HypotoniaHPOHP:0001252
- 17 of 35 reported patients
- DroolingHPOHP:0002307
- 7 of 16 reported patients
- Sleep disturbanceHPOHP:0002360
- 6 of 15 reported patients
- DysphagiaHPOHP:0002015
- 5 of 15 reported patients
- EEG abnormalityHPOHP:0002353
- 8 of 25 reported patients
- Motor stereotypyHPOHP:0000733
- 7 of 25 reported patients
Show the remaining 73
- Abnormality of visionHPOHP:0000504
- 3 of 12 reported patients
- Joint hypermobilityHPOHP:0001382
- 4 of 16 reported patients
- Caesarean sectionHPOHP:0011410
- 6 of 25 reported patients
- ConstipationHPOHP:0002019
- 6 of 25 reported patients
- Decreased body weightHPOHP:0004325
- 6 of 25 reported patients
- Delayed ability to sitHPOHP:0025336
- 6 of 25 reported patients
Where it sits
- A kind of
Other names
1 name
Resolves to: Kohlschutter-Tonz syndrome-like
- Also called
- KTZSL