Congenital Disorder of Glycosylation, Type IIf
CDG2F

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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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
Psychomotor retardation nervous 100 % 30115659 2024-05-14
Seizures nervous 100 % 30115659 2024-05-14
Ataxia nervous 100 % 30115659 2024-05-14
Microcephaly nervous 100 % 30115659 2024-05-14
Thrombocytopenia circulatory 100 % 30115659 2024-05-14
Iron deficiency circulatory 100 % 30115659 2024-05-14
Menorrhagia reproductive 100 % 30115659 2024-05-14
Bruising circulatory 100 % 30115659 2024-05-14
Choreiform movements nervous 100 % 30115659 2024-05-14
Mental retardation nervous 67 % 30115659 2024-05-14



List of references:


A mutation in the gene coding for the sialic acid transporter SLC35A1 is required for platelet life span but not proplatelet formation.
Alexandre Kauskot, Tiffany Pascreau, Frédéric Adam, Arnaud Bruneel, Christelle Reperant, Marc-Damien Lourenco-Rodrigues, Jean-Philippe Rosa, Rachel Petermann, Hélène Maurey, Claire Auditeau, Dominique Lasne, Cécile V Denis, Marijke Bryckaert, Pascale de Lonlay, Cécile Lavenu-Bombled, Judith Melki, Delphine Borgel,



Haematologica - Dec 2018