Term Name: congenital disorder of glycosylation Ix
Synonyms: congenital disorder of glycosylation 1x
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.
Ontology: Human Disease [DOID:0080573]   ( DOID:0080573 )

Relationships
is a type of: autosomal recessive disease congenital disorder of glycosylation type I