multiple mitochondrial dysfunctions syndrome 5
MONDO:0033282Mondo
Findings
No curated finding names multiple mitochondrial dysfunctions syndrome 5 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
- Infantile onset
HPO, annotations 2026-09-02
Features
20 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.
- Feeding difficultiesHPOHP:0011968
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- HyperreflexiaHPOHP:0001347
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- LeukodystrophyHPOHP:0002415
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- PachygyriaHPOHP:0001302
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- SpasticityHPOHP:0001257
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- VentriculomegalyHPOHP:0002119
- 2 of 2 reported patients
- Very frequent (80% to 99% of cases)
- Feeding difficulties in infancyHPOHP:0008872
- Very frequent (80% to 99% of cases)
- Abnormal cerebral white matter morphologyHPOHP:0002500
- Frequent (30% to 79% of cases)
- Developmental regressionHPOHP:0002376
- Frequent (30% to 79% of cases)
- Elevated brain lactate level by MRSHPOHP:0012707
- Frequent (30% to 79% of cases)
Show the remaining 8
- Hearing impairmentHPOHP:0000365
- Frequent (30% to 79% of cases)
- Increased circulating lactate concentrationHPOHP:0002151
- Frequent (30% to 79% of cases)
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 2 reported patients
- Occasional (5% to 29% of cases)
- StrabismusHPOHP:0000486
- 1 of 2 reported patients
- Inappropriate cryingHPOHP:0030215
- Occasional (5% to 29% of cases)
- NystagmusHPOHP:0000639
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.
- ISCA1HGNC:28660
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2020