Congenital Disorder of Glycosylation with Defective Fucosylation 1 |
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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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 % | 29304374 | 2024-05-14 | |
| Seizures | nervous | 100 % | 29304374 | 2024-05-14 | |
| Mental retardation | nervous | 100 % | 29304374 | 2024-05-14 | |
| Microcephaly | nervous | 100 % | 29304374 | 2024-05-14 | |
| Facial dysmorphism | multi | 100 % | 29304374 | 2024-05-14 | |
| Developmental delay | multi | 100 % | 29304374 | 2024-05-14 | |
| Feeding difficulties | digestive | 100 % | 29304374 | 2024-05-14 | |
| Intrauterine growth retardation | multi | 100 % | 29304374 | 2024-05-14 | |
| Polyhydramnios | multi | 67 % | 29304374 | 2024-05-14 | |
| Glaucoma | nervous | 33 % | 29304374 | 2024-05-14 | |
| Hypothyroidism | endocrine | 33 % | 29304374 | 2024-05-14 | |
| Reactive airway disease | respiratory | 33 % | 29304374 | 2024-05-14 | |
| Kidney Calcifications | urinary | 33 % | 29304374 | 2024-05-14 | |
| Atrial septum defect | circulatory | 33 % | 29304374 | 2024-05-14 | |
| Short stature | endocrine | 33 % | 29304374 | 2024-05-14 | |
| Short nose | integumentary | 33 % | 29304374 | 2024-05-14 | |
| Strabismus | nervous | 33 % | 29304374 | 2024-05-14 | |
| Proptosis | nervous | 33 % | 29304374 | 2024-05-14 | |
| Hirsutism | integumentary | 33 % | 29304374 | 2024-05-14 | |
| Buphthalmus | nervous | 33 % | 29304374 | 2024-05-14 | |
| Retrognathia | skeletal | 33 % | 29304374 | 2024-05-14 | |
| Broad nasal bridge | skeletal | 33 % | 29304374 | 2024-05-14 | |
| High arched palate | skeletal | 33 % | 29304374 | 2024-05-14 | |
| Hip dysplasia | skeletal | 33 % | 29304374 | 2024-05-14 | |
| Osteopenia | skeletal | 33 % | 29304374 | 2024-05-14 | |
| Kyphosis | skeletal | 33 % | 29304374 | 2024-05-14 |
List of references:
Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation.
Bobby G Ng, Gege Xu, Nandini Chandy, Joan Steyermark, Deepali N Shinde, Kelly Radtke, Kimiyo Raymond, Carlito B Lebrilla, Ali AlAsmari, Sharon F Suchy, Zöe Powis, Eissa Ali Faqeih, Susan A Berry, David F Kronn, Hudson H Freeze,
American journal of human genetics - Jan 2018