progressive myoclonic epilepsy type 3
Findings
No curated finding names progressive myoclonic epilepsy type 3 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the KCTD7 gene.
Definition from the Mondo Disease Ontology (MONDO:0012721), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
28 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.
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Cerebral atrophyHPOHP:0002059
- 2 of 2 reported patients
- Occasional (5% to 29% of cases)
- Developmental regressionHPOHP:0002376
- 2 of 2 reported patients · Childhood onset
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Intellectual disabilityHPOHP:0001249
Show the remaining 16
- Progressive psychomotor deteriorationHPOHP:0007272
- Frequent (30% to 79% of cases)
- Progressive truncal ataxiaHPOHP:0007221
- Frequent (30% to 79% of cases)
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
- Abnormality of visionHPOHP:0000504
- Occasional (5% to 29% of cases)
- Aplasia/Hypoplasia of the corpus callosumHPOHP:0007370
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.
- KCTD7HGNC:21957
- Definitive · G2P · Autosomal recessive · 2024
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: progressive myoclonic epilepsy type 3
- Also called
- CLN14 diseaseepilepsy, progressive myoclonic 3, with or without intracellular inclusionsEPM3KCTD7 progressive myoclonic epilepsyneuronal ceroid lipofuscinosis type 14PME type 3progressive myoclonic epilepsy caused by mutation in KCTD7progressive myoclonic epilepsy due to KCTD7 deficiencyprogressive myoclonus epilepsy type 3