Congenital disorder of glycosylation type Iy
CDG 1Y

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Prevalence (%) of clinical parameters based on data from 1 references describing 9 individuals







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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Developmental delay nervous 100 % 26264460 2017-01-06
Mental retardation nervous 100 % 26264460 2017-01-06
Hypotonia nervous 100 % 26264460 2017-01-06
Microcephaly skeletal 100 % 26264460 2017-01-06
Deep-set eyes skeletal 100 % 26264460 2017-01-06
Widely spaced teeth skeletal 100 % 26264460 2017-01-06
Large mouth skeletal 100 % 26264460 2017-01-06
Large ears integumentary 100 % 26264460 2017-01-06
Thin lips integumentary 100 % 26264460 2017-01-06
Feeding difficulties digestive 89 % 26264460 2017-01-06
Vomiting digestive 89 % 26264460 2017-01-06
Failure to thrive multi 78 % 26264460 2017-01-06
Strabismus nervous 78 % 26264460 2017-01-06
Seizures nervous 56 % 26264460 2017-01-06
Corpus callosum thining nervous 11 % 26264460 2017-01-06
Septum pellucidum defect nervous 11 % 26264460 2017-01-06
Periventricular leukomalacia nervous 11 % 26264460 2017-01-06
Horseshoe kidney urinary 11 % 26264460 2017-01-06



List of references:


Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Bobby G Ng, Kimiyo Raymond, Martin Kircher, Kati J Buckingham, Tim Wood, Jay Shendure, Deborah A Nickerson, Michael J Bamshad, , Jonathan T S Wong, Fabiola Paoli Monteiro, Brett H Graham, Sheryl Jackson, Rebecca Sparkes, Angela E Scheuerle, Sara Cathey, Fernando Kok, James B Gibson, Hudson H Freeze,



Human mutation - Nov 2015