congenital disorder of glycosylation, type IIz
MONDO:0859357Mondo
Findings
No curated finding names congenital disorder of glycosylation, type IIz 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
- Infantile onset
HPO, annotations 2026-09-02
Features
12 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.
- Appendicular spasticityHPOHP:0034353
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 1 of 1 reported patient
- ClonusHPOHP:0002169
- 1 of 1 reported patient
- Developmental regressionHPOHP:0002376
- 1 of 1 reported patient
- Diffuse cerebellar atrophyHPOHP:0100275
- 1 of 1 reported patient
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 1 of 1 reported patient
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Limb joint contractureHPOHP:0003121
- 1 of 1 reported patient
- Poor head controlHPOHP:0002421
- 1 of 1 reported patient
- SeizureHPOHP:0001250
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 1 of 1 reported patient
- Type II transferrin isoform profileHPOHP:0012301
- 1 of 1 reported patient
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.
- CAMLGHGNC:1471
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · ClinGen · Autosomal recessive · 2024