multiple mitochondrial dysfunctions syndrome 7
MONDO:0957382Mondo
Findings
No curated finding names multiple mitochondrial dysfunctions syndrome 7 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
51 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.
- Abnormal diffusion weighted cerebral MRI morphologyHPOHP:0032615
- 3 of 3 reported patients
- AgitationHPOHP:0000713
- 1 of 1 reported patient
- Ankle clonusHPOHP:0011448
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 2 of 2 reported patients
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Autistic behaviorHPOHP:0000729
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- ComaHPOHP:0001259
- 2 of 2 reported patients
- CyanosisHPOHP:0000961
- 1 of 1 reported patient
- Decreased liver functionHPOHP:0001410
- 1 of 1 reported patient
- DolichocephalyHPOHP:0000268
- 1 of 1 reported patient
Show the remaining 39
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- EEG with burst suppressionHPOHP:0010851
- 2 of 2 reported patients
- Elevated brain glycine level by MRSHPOHP:0034893
- 2 of 2 reported patients
- Elevated brain lactate level by MRSHPOHP:0012707
- 2 of 2 reported patients
- Exaggerated startle responseHPOHP:0002267
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 3 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.
- GCSHHGNC:4208
- Definitive · ClinGen · Autosomal recessive · 2026
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
Where it sits
Other names
1 name
Resolves to: multiple mitochondrial dysfunctions syndrome 7
- Also called
- GCSH-related glycine encephalopathy