encephalopathy, progressive, with amyotrophy and optic atrophy
MONDO:0014968Mondo
Findings
No curated finding names encephalopathy, progressive, with amyotrophy and optic atrophy 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 · Infantile onset · Progressive · Childhood onset
HPO, annotations 2026-09-02
Features
19 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.
- Distal amyotrophyHPOHP:0003693
- 6 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients · Infantile onset
- Intellectual disabilityHPOHP:0001249
- 6 of 6 reported patients
- SpasticityHPOHP:0001257
- 6 of 6 reported patients
- AtaxiaHPOHP:0001251
- 4 of 6 reported patients
- DysarthriaHPOHP:0001260
- 4 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 4 of 6 reported patients
- ScoliosisHPOHP:0002650
- 3 of 6 reported patients
- Absent speechHPOHP:0001344
- 2 of 6 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 2 of 6 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 6 reported patients
- SeizureHPOHP:0001250
- 2 of 6 reported patients
Show the remaining 7
- Spastic tetraplegiaHPOHP:0002510
- 2 of 6 reported patients
- Growth abnormalityHPOHP:0001507
- 0 of 6 reported patients
- Cerebellar atrophyHPOHP:0001272
- EncephalopathyHPOHP:0001298
- Hypoplasia of the corpus callosumHPOHP:0002079
- Peripheral axonal neuropathyHPOHP:0003477
- Spinal muscular atrophyHPOHP:0007269
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.
- TBCEHGNC:11582
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2017
- Moderate · ClinGen · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2022
Where it sits
- A kind of
Other names
2 names
Resolves to: encephalopathy, progressive, with amyotrophy and optic atrophy
- Also called
- encephalopathy, progressive, with amyotrophy and optic atrophy; PEAMOPEAMO