diencephalic-mesencephalic junction dysplasia syndrome 1
MONDO:0009625Mondo
Findings
No curated finding names diencephalic-mesencephalic junction dysplasia syndrome 1 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
- Antenatal onset
HPO, annotations 2026-09-02
Features
13 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.
- Axial hypotoniaHPOHP:0008936
- 3 of 3 reported patients
- DystoniaHPOHP:0001332
- 3 of 3 reported patients
- Focal clonic seizureHPOHP:0002266
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 3 of 3 reported patients
- Intrauterine growth retardationHPOHP:0001511
- 6 of 6 reported patients
- Primary microcephalyHPOHP:0011451
- 6 of 6 reported patients
- Progressive microcephalyHPOHP:0000253
- 3 of 3 reported patients
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Visual impairmentHPOHP:0000505
- 3 of 3 reported patients
- HypsarrhythmiaHPOHP:0002521
- 1 of 3 reported patients
- Infantile spasmsHPOHP:0012469
- 1 of 3 reported patients
- Premature birthHPOHP:0001622
- 2 of 6 reported patients
Show the remaining 1
- Tonic seizureHPOHP:0032792
- 1 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.
- PCDH12HGNC:8657
- Definitive · G2P · Autosomal recessive · 2020
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
2 names
Resolves to: diencephalic-mesencephalic junction dysplasia syndrome 1
- Also called
- DMJDS1microcephaly with spastic quadriplegia