Congenital Disorder of Glycosylation, Type Ix
CDG1X

Contact us
 
Return to database




Prevalence (%) of clinical parameters based on data from 1 references describing 23 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 86 % 18500572 2024-05-08
Strabismus nervous 64 % 18500572 2024-05-08
Hypotonia nervous 60 % 18500572 2024-05-08
Bleeding circulatory 39 % 18500572 2024-05-08
Decreased blood protein P nervous 39 % 18500572 2024-05-08
Decreased blood antithrombin III circulatory 39 % 18500572 2024-05-08
Decreased blood protein S circulatory 39 % 18500572 2024-05-08
Thrombotic episodes circulatory 35 % 18500572 2024-05-08
Coloboma nervous 35 % 18500572 2024-05-08
Hypoalbuminemia circulatory 35 % 18500572 2024-05-08
Liver failure digestive 35 % 18500572 2024-05-08
Vomiting digestive 30 % 18500572 2024-05-08
Diarrhea digestive 30 % 18500572 2024-05-08
Vermis hypoplasia nervous 30 % 18500572 2024-05-08
Cerebellar atrophy nervous 30 % 18500572 2024-05-08
Seizures nervous 30 % 18500572 2024-05-08
Low set ears multi 26 % 18500572 2024-05-08
Large ears multi 26 % 18500572 2024-05-08
Hypertelorism multi 26 % 18500572 2024-05-08
Clinodactyly skeletal 26 % 18500572 2024-05-08
Microcephaly nervous 26 % 18500572 2024-05-08
Optic atrophy nervous 21 % 18500572 2024-05-08
Blindness nervous 17 % 18500572 2024-05-08
Optic nerve atrophy nervous 17 % 18500572 2024-05-08
Thrombocytopenia circulatory 17 % 18500572 2024-05-08
Dystonia nervous 13 % 18500572 2024-05-08
Inverted nipples integumentary 13 % 18500572 2024-05-08
Ventricular septal defects circulatory 13 % 18500572 2024-05-08
Atrial septum defect circulatory 13 % 18500572 2024-05-08
Respiratory failure respiratory 13 % 18500572 2024-05-08
Recurrent infections lymphatic 9 % 18500572 2024-05-08
Cerebral hemorrhage circulatory 9 % 18500572 2024-05-08
Hearing loss nervous 9 % 18500572 2024-05-08
Cataract nervous 9 % 18500572 2024-05-08
Elevated creatine kinase (CK) levels circulatory 9 % 18500572 2024-05-08
Retarded myelination nervous 9 % 18500572 2024-05-08
Neuropathy nervous 4 % 18500572 2024-05-08
Cardiomyopathy circulatory 4 % 18500572 2024-05-08
Club foot skeletal 4 % 18500572 2024-05-08
Arachnodactyly skeletal 4 % 18500572 2024-05-08
Kidney cysts urinary 4 % 18500572 2024-05-08
Retinitis pigmentosa nervous 4 % 18500572 2024-05-08
Hyperechogenic kidney urinary 4 % 18500572 2024-05-08
Glaucoma nervous 4 % 18500572 2024-05-08
Hydrocephalus nervous 4 % 18500572 2024-05-08
Nail dystrophy integumentary 4 % 18500572 2024-05-08



List of references:


Congenital disorder of glycosylation type Ix: review of clinical spectrum and diagnostic steps.
E Morava, H Wosik, J Kárteszi, M Guillard, M Adamowicz, J Sykut-Cegielska, K Hadzsiev, R A Wevers, D J Lefeber,



Journal of inherited metabolic disease - Jun 2008