congenital brain dysgenesis due to glutamine synthetase deficiency
MONDO:0012393Mondo
Findings
No curated finding names congenital brain dysgenesis due to glutamine synthetase deficiency 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
- Neonatal death · Antenatal onset
HPO, annotations 2026-09-02
Features
28 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.
- ApneaHPOHP:0002104
- 1 of 1 reported patient
- BradycardiaHPOHP:0001662
- 1 of 1 reported patient
- Brain atrophyHPOHP:0012444
- 1 of 1 reported patient
- Decreased CSF glutamine concentrationHPOHP:0500198
- 3 of 3 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 1 reported patient
- HyperammonemiaHPOHP:0001987
- 1 of 1 reported patient
- HypoglutaminemiaHPOHP:0500147
- 2 of 2 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Low-set earsHPOHP:0000369
- 2 of 2 reported patients · Congenital onset
- Lower limb hyperreflexiaHPOHP:0002395
- 1 of 1 reported patient
- Neonatal respiratory distressHPOHP:0002643
- 2 of 2 reported patients · Neonatal onset
- Recurrent respiratory infectionsHPOHP:0002205
- 1 of 1 reported patient
Show the remaining 16
- SeizureHPOHP:0001250
- 3 of 3 reported patients
- Severe global developmental delayHPOHP:0011344
- 1 of 1 reported patient
- Anteverted naresHPOHP:0000463
- 1 of 2 reported patients
- CamptodactylyHPOHP:0012385
- 1 of 2 reported patients · Congenital onset
- Depressed nasal bridgeHPOHP:0005280
- 1 of 2 reported patients · Congenital onset
- ErythemaHPOHP:0010783
- 1 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.
- GLULHGNC:4341
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2020
- Moderate · ClinGen · Autosomal recessive · 2024
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: congenital brain dysgenesis due to glutamine synthetase deficiency
- Also called
- inherited glutamine synthetase deficiencyinherited GS deficiency