developmental delay with hypotonia, myopathy, and brain abnormalities
MONDO:0859375Mondo
Findings
No curated finding names developmental delay with hypotonia, myopathy, and brain abnormalities 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
25 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.
- BrachycephalyHPOHP:0000248
- 1 of 1 reported patient
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Cerebral cortical atrophyHPOHP:0002120
- 1 of 1 reported patient
- ClonusHPOHP:0002169
- 1 of 1 reported patient
- Delayed CNS myelinationHPOHP:0002188
- 2 of 2 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 1 of 1 reported patient
- Depressed nasal bridgeHPOHP:0005280
- 1 of 1 reported patient
- Elevated circulating creatine kinase activityHPOHP:0003236
- 1 of 1 reported patient
- Failure to thriveHPOHP:0001508
- 1 of 1 reported patient
- Flexion contractureHPOHP:0001371
- 1 of 1 reported patient
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
Show the remaining 13
- HypotoniaHPOHP:0001252
- 3 of 3 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
- Infantile spasmsHPOHP:0012469
- 1 of 1 reported patient
- MicrocephalyHPOHP:0000252
- 2 of 2 reported patients
- MicrognathiaHPOHP:0000347
- 1 of 1 reported patient
- Muscle fiber atrophyHPOHP:0100295
- 1 of 1 reported patient
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.
- GOLGA2HGNC:4425
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
- A kind of