Congenital Disorder of Glycosylation, Type Ie
CDG1E

Contact us
 
Return to database




Prevalence (%) of clinical parameters based on data from 1 references describing 8 individuals







Add new symptom/sign to this disease

Select symptom from list or write it in the box
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%)
Please provide your name and contact information as a reference
Name Institute Phone number Email address


List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Psychomotor retardation nervous 100 % 23856421 2024-04-30
Hypotonia nervous 100 % 23856421 2024-04-30
Abnormal clotting factors circulatory 100 % 23856421 2024-04-30
Microcephaly nervous 100 % 23856421 2024-04-30
Seizures nervous 88 % 23856421 2024-04-30
Blindness nervous 88 % 23856421 2024-04-30
Optic atrophy nervous 88 % 23856421 2024-04-30
Nystagmus nervous 88 % 23856421 2024-04-30
Increased blood CK circulatory 75 % 23856421 2024-06-14
Increased blood transaminase circulatory 50 % 23856421 2024-04-30
Cerebellar atrophy nervous 25 % 23856421 2024-04-30
Hypomyelination nervous 25 % 23856421 2024-04-30
Frontal lobe atrophy nervous 25 % 23856421 2024-04-30



List of references:


Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.
Amy C Yang, Bobby G Ng, Steven A Moore, Jeffrey Rush, Charles J Waechter, Kimiyo M Raymond, Tobias Willer, Kevin P Campbell, Hudson H Freeze, Lakshmi Mehta,



Molecular genetics and metabolism - Nov 2013