Definition

A congenital disorder of glycosylation I that is characterized by intrauterine growth retardation, microcephaly, failure to thrive, developmental delay, intellectual disability, hypotonia, seizures, optic nerve atrophy and respiratory difficulties and has_material_basis_in homozygous mutation in the STT3B gene on chromosome 3p23.

[1]

Synonyms

congenital disorder of glycosylation 1x

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

Gene	Species	Association	Disease Qualifier	Disease	Evidence	Based On	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Associated Alleles

Allele	Species	Association	Disease Qualifier	Disease	Evidence	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

Associated Models

Model	Species	Experimental condition	Association	Disease Qualifiers	Disease	Condition Modifier	Genetic Modifier	Evidence	Source	References
No records match query. Try removing filters.

Showing 0 - 0 of 0 rows

per page

congenital disorder of glycosylation Ix

congenital disorder of glycosylation Ix

Associated Genes

Associated Alleles

Associated Models