congenital disorder of glycosylation In

Term ID

DOID:0080566

Synonyms

• congenital disorder of glycosylation 1n

Definition

A congenital disorder of glycosylation I that is characterized by poorly coordinated suck resulting in difficulty feeding and failure to thrive, myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder, roving eyes, developmental delay, poor to absent visual contact, and sensorineural hearing loss and has_material_basis_in homozygous or compound heterozygous mutation in the RFT1 gene on chromosome 3p21. https://www.ncbi.nlm.nih.gov/pubmed/23111317

References

• GARD:12394
• MIM:612015
• ORDO:244310

Ontology

Human Disease   ( DOID:0080566 )