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Congenital Disorder of Glycosylation, TYPE IIl
CDG2L

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Prevalence (%) of clinical parameters based on data from 1 references describing 6 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
Liver and biliary tract abnormalities digestive 100 % 26260076 2024-05-06
Microcephaly nervous 83 % 26260076 2024-05-06
Cerebral atrophy nervous 83 % 26260076 2024-05-06
Cerebellar atrophy nervous 83 % 26260076 2024-05-06
Recurrent infections lymphatic 83 % 26260076 2024-05-06
Hypohidrosis integumentary 83 % 26260076 2024-05-06
Hydrocephalus nervous 83 % 26260076 2024-05-06
Thrombocytopenia circulatory 67 % 26260076 2024-05-06
Short stature endocrine 67 % 26260076 2024-05-06
Facial dysmorphism multi 67 % 26260076 2024-05-06
Immune deficiency lymphatic 50 % 26260076 2024-05-06
Coagulopathy circulatory 50 % 26260076 2024-05-06
Hyperkeratinosis integumentary 50 % 26260076 2024-05-06
Diarrhea digestive 50 % 26260076 2024-05-06
Atrial septum defect circulatory 50 % 26260076 2024-05-06
Polydactyly multi 33 % 26260076 2024-05-06
Hearing loss nervous 33 % 26260076 2024-05-06
Leukocytosis circulatory 33 % 26260076 2024-05-06
Pancytopenia circulatory 33 % 26260076 2024-05-06
Persistent ductus arteriosus circulatory 33 % 26260076 2024-05-06
Seizures nervous 33 % 26260076 2024-05-06
Hyperglycemia endocrine 17 % 26260076 2024-05-06
Anemia circulatory 17 % 26260076 2024-05-06
Renal agenesis urinary 17 % 26260076 2024-05-06
Adrenal gland hypoplasia endocrine 17 % 26260076 2024-05-06
Thymus hyperplasia lymphatic 17 % 26260076 2024-05-06
Hyperechogenic kidney urinary 17 % 26260076 2024-05-06
Hypotonia nervous 17 % 26260076 2024-05-06
Optic nerve atrophy nervous 17 % 26260076 2024-05-06
Scoliosis skeletal 17 % 26260076 2024-05-06
Arthrogryposis multi 17 % 26260076 2024-05-06
Hip dysplasia multi 17 % 26260076 2024-05-06
Enamel hypoplasia integumentary 17 % 26260076 2024-05-06
Cortical atrophy nervous 17 % 26260076 2024-05-06
Corpus callosum agenesis nervous 17 % 26260076 2024-05-06



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