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Prevalence (%) of clinical parameters based on data from 1 references describing 5 individuals
Add new symptom/sign to this disease
| 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 |
| 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 | |
| Increased blood CK | circulatory | 40 % | 32157688 | 2024-06-14 | |
| 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