congenital disorder of glycosylation, type iit
MONDO:0030043Mondo
Findings
No curated finding names congenital disorder of glycosylation, type iit 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
43 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 protein O-linked glycosylationHPOHP:0012358
- 7 of 7 reported patients
- Low-set earsHPOHP:0000369
- 7 of 7 reported patients
- Posteriorly rotated earsHPOHP:0000358
- 7 of 7 reported patients
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 6 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 6 of 7 reported patients
- Decreased serum creatinineHPOHP:0012101
- 6 of 7 reported patients
- InsomniaHPOHP:0100785
- 6 of 7 reported patients
- SeizureHPOHP:0001250
- 6 of 7 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 6 of 7 reported patients
- Delayed ability to walkHPOHP:0031936
- 5 of 7 reported patients · Infantile onset
- Delayed gross motor developmentHPOHP:0002194
- 5 of 7 reported patients
- Reduced eye contactHPOHP:0000817
- 5 of 7 reported patients
Show the remaining 31
- Delayed ability to sitHPOHP:0025336
- 3 of 7 reported patients · Infantile onset
- Decreased circulating HDL-C concentrationHPOHP:0003233
- 2 of 6 reported patients
- HypotriglyceridemiaHPOHP:0012153
- 2 of 6 reported patients
- BrachycephalyHPOHP:0000248
- 2 of 7 reported patients
- MicrocephalyHPOHP:0000252
- 2 of 7 reported patients
- Pineal cystHPOHP:0012683
- 2 of 7 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.
- GALNT2HGNC:4124
- Strong · Ambry Genetics · Autosomal recessive · 2020
- Strong · ClinGen · Autosomal recessive · 2024
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2020
Where it sits
Other names
2 names
Resolves to: congenital disorder of glycosylation, type iit
- Also called
- Cdg IitCDG2T