congenital disorder of glycosylation type 1E
Findings
No curated finding names congenital disorder of glycosylation type 1E yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type Ie is characterized by psychomotor delay, seizures, hypotonia, facial dysmorphism and microcephaly. Ocular anomalies are also very common.
Definition from the Mondo Disease Ontology (MONDO:0012123), read 2026-09-29. CC BY 4.0.
Features
60 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.
- Elevated circulating creatine kinase activityHPOHP:0003236
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
- Secondary microcephalyHPOHP:0005484
- Very frequent (80% to 99% of cases)
- SeizureHPOHP:0001250
- Very frequent (80% to 99% of cases)
- Abnormal dentate nucleus morphologyHPOHP:0100321
- Frequent (30% to 79% of cases)
- Delayed myelination
Show the remaining 48
- Reduced protein C activityHPOHP:0005543
- Frequent (30% to 79% of cases)
- Reduced protein S activityHPOHP:0004855
- Frequent (30% to 79% of cases)
- Abnormal visual fixationHPOHP:0025404
- Occasional (5% to 29% of cases)
- AtaxiaHPOHP:0001251
- Occasional (5% to 29% of cases)
- Atonic seizureHPOHP:0010819
- Occasional (5% to 29% of cases)
- CamptodactylyHPOHP:0012385
- Occasional (5% to 29% of cases)
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.
- DPM1HGNC:3005
- Definitive · ClinGen · Autosomal recessive · 2023
- Definitive · G2P · Autosomal recessive · 2017
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Illumina · Autosomal recessive · 2020
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
9 names
Resolves to: congenital disorder of glycosylation type 1E
- Also called
- carbohydrate deficient glycoprotein syndrome type IeCDG syndrome type IeCDG-IeCDG1ECDGIecongenital disorder of glycosylation caused by mutation in DPM1congenital disorder of glycosylation type IeDol-P-mannosyltransferase deficiencyDPM1 congenital disorder of glycosylation