leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
MONDO:0030036Mondo
Findings
No curated finding names leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal dominant inheritance · Typically de novo
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
9 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.
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 1 reported patient
- BradykinesiaHPOHP:0002067
- 1 of 1 reported patient
- Delayed ability to walkHPOHP:0031936
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 1 of 1 reported patient
- Lower limb spasticityHPOHP:0002061
- 1 of 1 reported patient
- Urinary urgencyHPOHP:0000012
- 1 of 1 reported patient
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.
- EIF2AK1HGNC:24921
- Limited · Ambry Genetics · Autosomal dominant · 2020
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020
- Limited · G2P · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
2 names
Resolves to: leukoencephalopathy, motor delay, spasticity, and dysarthria syndrome
- Also called
- LEMSPADLemspad Syndrome