congenital disorder of glycosylation Ix

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_mate

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.

Signs and symptoms

• Microcephaly
• Micropenis
• Small scrotum
• Cerebellar atrophy
• Feeding difficulties
• Respiratory distress
• Seizure
• Global developmental delay
• Hypotonia
• Abnormal glycosylation

Also known as: congenital disorder of glycosylation 1x