congenital ichthyosis-microcephalus-tetraplegia syndrome
MONDO:0016417Mondo
Findings
No curated finding names congenital ichthyosis-microcephalus-tetraplegia syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Features
8 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.
- Abnormality of the faceHPOHP:0000271
- Very frequent (80% to 99% of cases)
- Abnormality of the musculatureHPOHP:0003011
- Very frequent (80% to 99% of cases)
- Dry skinHPOHP:0000958
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- MicrocephalyHPOHP:0000252
- Very frequent (80% to 99% of cases)
- Pain insensitivityHPOHP:0007021
- Very frequent (80% to 99% of cases)
- TetraplegiaHPOHP:0002445
- Very frequent (80% to 99% of cases)
Where it sits
- A kind of
Other names
1 name
Resolves to: congenital ichthyosis-microcephalus-tetraplegia syndrome
- Also called
- congenital ichthyosis-microcephalus-quadriplegia syndrome