FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
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Term congenital disorder of glycosylation Iy ID (Ontology) DOID:0080574 (Human Disease)
Definition A congenital disorder of glycosylation I that is characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus and has_material_basis_in hemizygous mutation in the SSR4 gene on chromosome Xq28.
Also Known As "congenital disorder of glycosylation 1y"
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 Genes
 congenital disorder of glycosylation Iy       1
 for disease ribbon | congenital disorder of glycosylation Iy       1
 model of | congenital disorder of glycosylation Iy       1
Spanning Tree (Parents/Children)
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X-linked monogenic disease
 |__X-linked recessive disease___________________
congenital disorder of glycosylation             |
 |__congenital disorder of glycosylation type I__|
                                                 congenital disorder of glycosylation Iy  1 rec.
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Is a congenital disorder of glycosylation type I
X-linked recessive disease
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Synonyms
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Secondary IDs
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GARD:12405
MIM:300934
ORDO:370927