ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
MONDO:0032798Mondo
Findings
No curated finding names ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features 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
- Infantile onset
HPO, annotations 2026-09-02
Features
23 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.
- AtaxiaHPOHP:0001251
- 2 of 2 reported patients
- Dry skinHPOHP:0000958
- 2 of 2 reported patients
- Epidermal acanthosisHPOHP:0025092
- 2 of 2 reported patients
- HyperkeratosisHPOHP:0000962
- 2 of 2 reported patients
- IchthyosisHPOHP:0008064
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- ParakeratosisHPOHP:0001036
- 2 of 2 reported patients
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients
- Spastic paraplegiaHPOHP:0001258
- 2 of 2 reported patients
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
- Babinski signHPOHP:0003487
- 1 of 2 reported patients
Show the remaining 11
- Brisk reflexesHPOHP:0001348
- 1 of 2 reported patients
- CNS hypomyelinationHPOHP:0003429
- 1 of 2 reported patients
- Constriction of peripheral visual fieldHPOHP:0001133
- 1 of 2 reported patients
- DysarthriaHPOHP:0001260
- 1 of 2 reported patients
- DysmetriaHPOHP:0001310
- 1 of 2 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- ELOVL1HGNC:14418
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2019
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Limited · Ambry Genetics · Autosomal dominant · 2018
- Limited · Ambry Genetics · Autosomal recessive · 2022
- Limited · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of
Other names
1 name
Resolves to: ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
- Also called
- ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies