lethal congenital contracture syndrome 12
MONDO:0981031Mondo
Findings
No curated finding names lethal congenital contracture syndrome 12 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
- Congenital onset · Second trimester onset · Late first trimester onset
HPO, annotations 2026-09-02
Features
66 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 autonomic nervous system physiologyHPOHP:0012332
- 1 of 1 reported patient
- Abnormal left ventricular functionHPOHP:0005162
- 1 of 1 reported patient
- Ankle contractureHPOHP:0034677
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- Areflexia of lower limbsHPOHP:0002522
- 1 of 1 reported patient
- Areflexia of upper limbsHPOHP:0012046
- 1 of 1 reported patient
- Bilateral ptosisHPOHP:0001488
- 1 of 1 reported patient
- Bilateral talipes equinovarusHPOHP:0001776
- 3 of 3 reported patients
- Bilateral vocal cord paresisHPOHP:0012822
- 1 of 1 reported patient
- Cardiac arrestHPOHP:0001695
- 1 of 1 reported patient
- Choroid plexus cystHPOHP:0002190
- 1 of 1 reported patient
- Compound motor action potential abnormalityHPOHP:0033580
- 1 of 1 reported patient
Show the remaining 54
- Corneal scarringHPOHP:0000559
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Distal arthrogryposisHPOHP:0005684
- 4 of 4 reported patients
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- FeverHPOHP:0001945
- 1 of 1 reported patient
- Finger joint contractureHPOHP:0034681
- 3 of 3 reported patients