psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
MONDO:0044726Mondo
Findings
No curated finding names psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 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 · Juvenile onset · Fetal onset · Childhood onset
HPO, annotations 2026-09-02
Features
39 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.
- Agenesis of corpus callosumHPOHP:0001274
- 1 of 1 reported patient
- Arachnoid cystHPOHP:0100702
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 7 of 7 reported patients
- ChoreoathetosisHPOHP:0001266
- 6 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 6 of 6 reported patients
- Developmental regressionHPOHP:0002376
- 6 of 6 reported patients
- DyskinesiaHPOHP:0100660
- 6 of 6 reported patients
- DystoniaHPOHP:0001332
- 7 of 7 reported patients
- Elevated circulating CK-MB concentrationHPOHP:0032232
- 1 of 1 reported patient
- Facial hypotoniaHPOHP:0000297
- 1 of 1 reported patient
- Failure to thrive in infancyHPOHP:0001531
- 1 of 1 reported patient
- Feeding difficultiesHPOHP:0011968
- 1 of 1 reported patient
Show the remaining 27
- Global developmental delayHPOHP:0001263
- 6 of 6 reported patients
- Growth delayHPOHP:0001510
- 1 of 1 reported patient
- Hyperechogenic kidneysHPOHP:0004719
- 4 of 4 reported patients
- HypertensionHPOHP:0000822
- 4 of 4 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 1 of 1 reported patient
- Limb ataxiaHPOHP:0002070
- 6 of 6 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.
- SLC30A9HGNC:1329
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2023
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
- Also called
- Cerebrorenal syndrome, Perez type