Definition

A carbohydrate metabolic disorder that is characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production and that has_material_basis_in homozygous or compound heterozygous mutation in the NGLY1 gene on chromosome 3p24.

Synonyms

congenital disorder of glycosylation type Iv
deficiency of N-glycanase 1

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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congenital disorder of deglycosylation 1

congenital disorder of deglycosylation 1

Associated Genes

Associated Alleles

Associated Models