/congenital disorder of glycosylation type 1EE with or without immunodeficiency

congenital disorder of glycosylation type 1EE with or without immunodeficiency

Rare Disease

MONDO:0976261

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Gene data from MyGene.info • Click to view on NCBI Gene

congenital disorder of glycosylation type I

MONDO:0005500

congenital disorder of glycosylation type II

MONDO:0005501

Larsen-like syndrome, B3GAT3 type

MONDO:0009511

Ehlers-Danlos syndrome, musculocontractural type

MONDO:0011142

temtamy preaxial brachydactyly syndrome

MONDO:0011533

progressive myoclonic epilepsy type 3

MONDO:0012721