hyperphenylalaninemia due to DNAJC12 deficiency
MONDO:0044304Mondo
Findings
No curated finding names hyperphenylalaninemia due to DNAJC12 deficiency yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
HPO, annotations 2026-09-02
Features
10 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.
- DystoniaHPOHP:0001332
- 4 of 6 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 6 reported patients
- Mild intellectual disabilityHPOHP:0001256
- 3 of 6 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 2 of 6 reported patients
- Attention deficit hyperactivity disorderHPOHP:0007018
- 1 of 5 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 6 reported patients
- Limb hypertoniaHPOHP:0002509
- 1 of 6 reported patients
- NystagmusHPOHP:0000639
- 1 of 6 reported patients
- Oculogyric crisisHPOHP:0010553
- 1 of 6 reported patients
- ParkinsonismHPOHP:0001300
- 1 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.
- DNAJC12HGNC:28908
- Definitive · ClinGen · Autosomal recessive · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021