Congenital Disorder of Glycosylation, Type IId
CDG2D

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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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
Hypotonia nervous 100 % 32157688 2024-05-10
Mental retardation nervous 60 % 32157688 2024-05-10
Pulmonary hypertension respiratory 60 % 32157688 2024-05-10
Seizures nervous 60 % 32157688 2024-05-10
Posteriorly rotated ears multi 40 % 32157688 2024-05-10
Pancytopenia lymphatic 40 % 32157688 2024-05-10
Hepatomegaly digestive 40 % 32157688 2024-05-10
Elevated creatine kinase (CK) levels circulatory 40 % 32157688 2024-05-10
Facial dysmorphism multi 40 % 32157688 2024-05-10
Coagulopathy circulatory 40 % 32157688 2024-05-10
Hearing impairment nervous 20 % 32157688 2024-05-10
Hypothyroidism endocrine 20 % 32157688 2024-05-10
Dermatitis integumentary 20 % 32157688 2024-05-10
Inverted nipples integumentary 20 % 32157688 2024-05-10
Thin lips integumentary 20 % 32157688 2024-05-10
Long philtrum multi 20 % 32157688 2024-05-10
Broad nasal bridge skeletal 20 % 32157688 2024-05-10
Hypertelorism skeletal 20 % 32157688 2024-05-10
Prominent nose skeletal 20 % 32157688 2024-05-10
Glomerulonephritis urinary 20 % 32157688 2024-05-10
Thrombocytopenia circulatory 20 % 32157688 2024-05-10
Neck weakness multi 20 % 32157688 2024-05-10
Macrocephaly nervous 20 % 32157688 2024-05-10
Hypertonia nervous 20 % 32157688 2024-05-10
Dystonia multi 20 % 32157688 2024-05-10
Diarrhea nervous 20 % 32157688 2024-05-10
Vermis hypoplasia nervous 20 % 32157688 2024-05-10
Hydrocephalus nervous 20 % 32157688 2024-05-10
Involuntary movements multi 20 % 32157688 2024-05-10



List of references:


B4GALT1-congenital disorders of glycosylation: Expansion of the phenotypic and molecular spectrum and review of the literature.
Orna Staretz-Chacham, Iris Noyman, Ohad Wormser, Abed Abu Quider, Guy Hazan, Iris Morag, Noam Hadar, Kimiyo Raymond, Ohad S Birk, Carlos R Ferreira, Arie Koifman,



Clinical genetics - Jun 2020