All diseases

OMIM ID
612379
OMIM term:
CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iq; CDG1Q
Alternative terms:
COLOBOMA, OCULAR, WITH ICHTHYOSIS, BRAIN MALFORMATIONS, AND ENDOCRINE ABNORMALITIES
CDG Iq; CDGIq
(∗) Location:
4q12  
(†) Associated OMIM genes:
SRD5A3  
(‡) Associated MGI genes:

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* quick link - http://q.sanger.ac.uk/i4xa8taf