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.

[1]

Synonyms

congenital disorder of glycosylation 1n

Cross References

Parent Terms

Child Terms

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congenital disorder of glycosylation In

congenital disorder of glycosylation In

Associated Genes

Associated Alleles

Associated Models