combined oxidative phosphorylation defect type 13

MONDO:0013977Mondo

Findings

No curated finding names combined oxidative phosphorylation defect type 13 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.

Combined oxidative phosphorylation defect type 13 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by normal early development followed by the sudden onset in infancy of poor feeding, dysphagia, truncal (followed by global) hypotonia, motor regression, abnormal movements (i.e. severe dystonia of limbs, choreoathetosis, facial dyskinesias) and reduced tendon reflexes. The disease course is severe but nonprogressive.

Definition from the Mondo Disease Ontology (MONDO:0013977), read 2026-09-29. CC BY 4.0.

Inheritance: Autosomal recessive inheritance
Onset and course: Infantile onset

Features

41 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.

Axial hypotoniaHPOHP:0008936
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
ChoreoathetosisHPOHP:0001266
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
Decreased nerve conduction velocityHPOHP:0000762
- 1 of 1 reported patient
- Occasional (5% to 29% of cases)
DystoniaHPOHP:0001332
- 2 of 2 reported patients
EncephalopathyHPOHP:0001298
- 2 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.

PNPT1HGNC:23166
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Ambry Genetics · Autosomal recessive · 2019
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025

Where it sits

A kind of: combined oxidative phosphorylation deficiency

Other names

4 names

Resolves to: combined oxidative phosphorylation defect type 13

Also called: combined oxidative phosphorylation deficiency caused by mutation in PNPT1combined oxidative phosphorylation deficiency type 13COXPD13PNPT1 combined oxidative phosphorylation deficiency

Show the remaining 29

Delayed myelinationHPOHP:0012448
- Frequent (30% to 79% of cases)
Generalized hypotoniaHPOHP:0001290
- Frequent (30% to 79% of cases)
Limb dystoniaHPOHP:0002451
- Frequent (30% to 79% of cases)
Muscle weaknessHPOHP:0001324
- Frequent (30% to 79% of cases)
NystagmusHPOHP:0000639
- Frequent (30% to 79% of cases)
Profound static encephalopathyHPOHP:0007069
- Frequent (30% to 79% of cases)
Sensorineural hearing impairmentHPOHP:0000407
- Frequent (30% to 79% of cases)
Decreased mitochondrial complex III activity in liver tissueHPOHP:0006558
- 1 of 2 reported patients
DyskinesiaHPOHP:0100660
- 1 of 2 reported patients
Feeding difficulties in infancyHPOHP:0008872
- 1 of 2 reported patients
Skeletal muscle atrophyHPOHP:0003202
- 1 of 2 reported patients
Abnormal basal ganglia morphologyHPOHP:0002134
- Occasional (5% to 29% of cases)
Abnormal corpus callosum morphologyHPOHP:0001273
- Occasional (5% to 29% of cases)
Abnormality of eye movementHPOHP:0000496
- Occasional (5% to 29% of cases)
Absent speechHPOHP:0001344
- Occasional (5% to 29% of cases)
Ankle flexion contractureHPOHP:0006466
- Occasional (5% to 29% of cases)
Developmental cataractHPOHP:0000519
- Occasional (5% to 29% of cases)
Elevated CSF neopterin levelHPOHP:0040204
- Occasional (5% to 29% of cases)
Failure to thriveHPOHP:0001508
- Occasional (5% to 29% of cases)
Feeding difficultiesHPOHP:0011968
- Occasional (5% to 29% of cases)
Gastrostomy tube feeding in infancyHPOHP:0011471
- Occasional (5% to 29% of cases)
Hip contractureHPOHP:0003273
- Occasional (5% to 29% of cases)
Intrauterine growth retardationHPOHP:0001511
- Occasional (5% to 29% of cases)
Lower limb hypertoniaHPOHP:0006895
- Occasional (5% to 29% of cases)
Orofacial dyskinesiaHPOHP:0002310
- Occasional (5% to 29% of cases)
Sensory neuropathyHPOHP:0000763
- Occasional (5% to 29% of cases)
Subsarcolemmal accumulations of abnormally shaped mitochondriaHPOHP:0003548
- Occasional (5% to 29% of cases)
Type 1 muscle fiber predominanceHPOHP:0003803
- Occasional (5% to 29% of cases)
Type 2 muscle fiber atrophyHPOHP:0003554
- Occasional (5% to 29% of cases)