multiple mitochondrial dysfunctions syndrome 9b
MONDO:0971174Mondo
Findings
No curated finding names multiple mitochondrial dysfunctions syndrome 9b 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 · Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
193 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.
- Abdominal painHPOHP:0002027
- 1 of 1 reported patient
- Abnormal corpus callosum morphologyHPOHP:0001273
- 6 of 6 reported patients
- Abnormal diffusion weighted cerebral MRI morphologyHPOHP:0032615
- 6 of 6 reported patients
- Abnormal mitochondrial morphologyHPOHP:0008322
- 2 of 2 reported patients
- Abnormal retinal nerve fiber layer morphologyHPOHP:0020119
- 1 of 1 reported patient
- Abnormality of somatosensory evoked potentialsHPOHP:0007377
- 1 of 1 reported patient
- AgitationHPOHP:0000713
- 1 of 1 reported patient
- Ambiguous genitaliaHPOHP:0000062
- 1 of 1 reported patient
- AmblyopiaHPOHP:0000646
- 1 of 1 reported patient
- AminoaciduriaHPOHP:0003355
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 1 of 1 reported patient
- ApneaHPOHP:0002104
- 3 of 3 reported patients
Show the remaining 181
- Appendicular spasticityHPOHP:0034353
- 1 of 1 reported patient
- AreflexiaHPOHP:0001284
- 1 of 1 reported patient
- Areflexia of lower limbsHPOHP:0002522
- 1 of 1 reported patient
- AstheniaHPOHP:0025406
- 1 of 1 reported patient
- Attenuation of retinal blood vesselsHPOHP:0007843
- 6 of 6 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient