DO_rare_slim has material basis in disease has basis in congenital disorder of glycosylation type I autosomal recessive disease congenital disorder of glycosylation Ig disease_ontology A congenital disorder of glycosylation I that is characterized by facial dysmorphism (prominent forehead, large ears, thin upper lip), generalized hypotonia, feeding difficulties, moderate to severe developmental delay, progressive microcephaly, frequent upper respiratory tract infections due to impaired immunity with decreased immunoglobulin levels, and decreased coagulation factors and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding dolichyl-P-mannose:Man-7-GlcNAc-2-PP-dolichyl-alpha-6-mannosyltransferase on chromosome 22q13. GARD:9833 DOID:0080559 MIM:607143 ALG12-congenital disorder of glycosylation ORDO:79324 congenital disorder of glycosylation 1g autosomal recessive inheritance Abnormality of prenatal development or birth