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Congenital Disorder of Glycosylation, Type IIk
CDG2K

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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
Skin wrinkles integumentary 100 % 22683087 2024-04-29
Facial dysmorphism multi 100 % 22683087 2024-04-29
Short stature endocrine 100 % 22683087 2024-04-29
Increased blood transaminase circulatory 80 % 22683087 2024-04-29
Decreased growth hormone endocrine 80 % 22683087 2024-04-29
Microcephaly nervous 80 % 22683087 2024-04-29
Muscle weakness nervous 80 % 22683087 2024-04-29
Psychomotor retardation nervous 80 % 22683087 2024-04-29
Hypermobile joints skeletal 80 % 22683087 2024-04-29
Hypoplasia of the pituitary gland nervous 60 % 22683087 2024-04-29
Thrombocytopenia circulatory 60 % 22683087 2024-04-29
Visual impairment nervous 60 % 22683087 2024-04-29
Hepatomegaly digestive 60 % 22683087 2024-04-29
Midfacial hypoplasia multi 60 % 22683087 2024-04-29
Dysplastic fourth metacarpals and metatarsals skeletal 60 % 22683087 2024-04-29
Bone dysplasia skeletal 60 % 22683087 2024-04-29
Kyphosis skeletal 60 % 22683087 2024-04-29
Hypoplasia of femoral heads skeletal 60 % 22683087 2024-04-29
Cerebral atrophy nervous 60 % 22683087 2024-04-29
Dysplastic vertebrae and ribs skeletal 60 % 22683087 2024-04-29
Osteoporosis skeletal 60 % 22683087 2024-04-29
Coagulopathy circulatory 40 % 22683087 2024-04-29
Feeding difficulties multi 40 % 22683087 2024-04-29
Hypothermia multi 40 % 22683087 2024-04-29
Seizures nervous 40 % 22683087 2024-04-29
Dysplastic toenails integumentary 20 % 22683087 2024-04-29
Amelogenesis imperfecta integumentary 20 % 22683087 2024-04-29



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