atypical glycine encephalopathy
Findings
No curated finding names atypical glycine encephalopathy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Atypical glycine encephalopathy is a rare form of glycine encephalopathy (GE) presenting disease onset or clinical manifestations that differ from neonatal or infantile GE.
Definition from the Mondo Disease Ontology (MONDO:0015010), read 2026-09-29. CC BY 4.0.
Features
23 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.
- Anteverted naresHPOHP:0000463
- Arthrogryposis multiplex congenitaHPOHP:0002804
- Axial hypotoniaHPOHP:0008936
- ClonusHPOHP:0002169
- Depressed nasal bridgeHPOHP:0005280
- DolichocephalyHPOHP:0000268
- Fetal distressHPOHP:0025116
- Flexion contractureHPOHP:0001371
- Genu recurvatumHPOHP:0002816
- Global developmental delayHPOHP:0001263
- Hand clenchingHPOHP:0001188
- Hip dislocationHPOHP:0002827
Show the remaining 11
- HypertoniaHPOHP:0001276
- Hypoplasia of the corpus callosumHPOHP:0002079
- Long eyelashesHPOHP:0000527
- Low-set earsHPOHP:0000369
- Overlapping toeHPOHP:0001845
- PtosisHPOHP:0000508
- Respiratory failureHPOHP:0002878
- RetrognathiaHPOHP:0000278
Genes
4 genes
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.
- SLC6A9HGNC:11056
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Strong · G2P · Autosomal recessive · 2025
- Supportive · Orphanet · Unknown · 2021
- AMTHGNC:473
- Supportive · Orphanet · Unknown · 2021
- GCSHHGNC:4208
- Supportive · Orphanet · Unknown · 2021
- GLDCHGNC:4313
- Supportive · Orphanet · Unknown · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: atypical glycine encephalopathy
- Also called
- atypical NKAatypical non-ketotic hyperglycinemia