congenital disorder of deglycosylation 1
Findings
No curated finding names congenital disorder of deglycosylation 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare autosomal recessive inherited disorder caused by mutations in the NGLY1 gene. It is characterized by developmental delay, hypotonia, abnormal involuntary movements, poor tear production, microcephaly, intractable seizures, abnormal eye movements, and liver abnormalities.
Definition from the Mondo Disease Ontology (MONDO:0800044), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
146 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.
- Abnormality of movementHPOHP:0100022
- 2 of 2 reported patients
- Chondroitin sulfate excretion in urineHPOHP:0012070
- 1 of 1 reported patient
- Corneal opacityHPOHP:0007957
- 2 of 2 reported patients
- Decreased sensory nerve conduction velocityHPOHP:0003448
- 2 of 2 reported patients
- Delayed CNS myelinationHPOHP:0002188
- 1 of 1 reported patient
- Dilation of Virchow-Robin spacesHPOHP:0012520
- 1 of 1 reported patient
- Elevated brain choline level by MRSHPO
Show the remaining 134
- HypotoniaHPOHP:0001252
- 13 of 13 reported patients
- Impaired oropharyngeal swallow responseHPOHP:0031162
- 11 of 11 reported patients
- Occasional (5% to 29% of cases)
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Frequent (30% to 79% of cases)
- Keratan sulfate excretion in urineHPOHP:0012069
- 1 of 1 reported patient
- Motor regressionHPOHP:0033044
- 1 of 1 reported patient
- Oral-pharyngeal dysphagiaHPOHP:0200136
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.
- NGLY1HGNC:17646
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2018
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
6 names
Resolves to: congenital disorder of deglycosylation 1
- Also called
- CDG1Vcongenital disorder of glycosylation type IVNGLY1 DeficiencyNGLY1-CDDGNGLY1-deficiencyNGLY1-related congenital disorder of deglycosylation