pontocerebellar hypoplasia type 6
Findings
No curated finding names pontocerebellar hypoplasia type 6 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Pontocerebellar hypoplasia type 6 (PCH6) is a rare form of pontocerebellar hypoplasia characterized clinically at birth by hypotonia, clonus, epilepsy impaired swallowing and from infancy by progressive microencephaly, spasticity and lactic acidosis.
Definition from the Mondo Disease Ontology (MONDO:0012683), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
24 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.
- Failure to thriveHPOHP:0001508
- 3 of 3 reported patients
- Feeding difficultiesHPOHP:0011968
- 3 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 3 of 3 reported patients
- Profound global developmental delayHPOHP:0012736
- 3 of 3 reported patients
- ApneaHPOHP:0002104
- 2 of 3 reported patients
- Cerebellar atrophyHPOHP:0001272
- 2 of 3 reported patients
- Decreased activity of mitochondrial complex IHPO
Show the remaining 12
- Cerebellar hypoplasiaHPOHP:0001321
- 1 of 3 reported patients
- Cerebellar vermis hypoplasiaHPOHP:0001320
- 1 of 3 reported patients
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 3 reported patients
- Decreased activity of mitochondrial complex IIIHPOHP:0011924
- 1 of 3 reported patients
- Elbow contractureHPOHP:0034391
- 1 of 3 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 3 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.
- RARS2HGNC:21406
- Definitive · G2P · Autosomal recessive · 2015
- Definitive · Natera · Autosomal recessive · 2023
- Strong · Ambry Genetics · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · Laboratory for Molecular Medicine · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
4 names
Resolves to: pontocerebellar hypoplasia type 6
- Also called
- fatal infantile encephalopathy with mitochondrial respiratory chain defectsnon-syndromic pontocerebellar hypoplasia caused by mutation in RARS2PCH6RARS2 non-syndromic pontocerebellar hypoplasia