diencephalic-mesencephalic junction dysplasia syndrome 2
MONDO:0020762Mondo
Findings
No curated finding names diencephalic-mesencephalic junction dysplasia syndrome 2 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
HPO, annotations 2026-09-02
Features
9 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.
- Abnormal basal ganglia morphologyHPOHP:0002134
- 2 of 2 reported patients
- Absent speechHPOHP:0001344
- 2 of 2 reported patients
- Decreased thalamic volumeHPOHP:0012695
- 2 of 2 reported patients
- DystoniaHPOHP:0001332
- 2 of 2 reported patients
- Feeding difficulties in infancyHPOHP:0008872
- 2 of 2 reported patients · Infantile onset
- Hypoplasia of the olfactory bulbHPOHP:0040326
- 2 of 2 reported patients
- Inability to walkHPOHP:0002540
- 2 of 2 reported patients
- Severe global developmental delayHPOHP:0011344
- 2 of 2 reported patients
- Spastic tetraplegiaHPOHP:0002510
- 2 of 2 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.
- GSX2HGNC:24959
- Moderate · ClinGen · Autosomal recessive · 2026
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2019
Where it sits
Other names
1 name
Resolves to: diencephalic-mesencephalic junction dysplasia syndrome 2
- Also called
- DMJDS2