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Prevalence (%) of clinical parameters based on data from 1 references describing 9 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 |
| Developmental delay | nervous | 100 % | 26264460 | 2017-01-06 | |
| Mental retardation | nervous | 100 % | 26264460 | 2017-01-06 | |
| Hypotonia | nervous | 100 % | 26264460 | 2017-01-06 | |
| Microcephaly | skeletal | 100 % | 26264460 | 2017-01-06 | |
| Deep-set eyes | skeletal | 100 % | 26264460 | 2017-01-06 | |
| Widely spaced teeth | skeletal | 100 % | 26264460 | 2017-01-06 | |
| Large mouth | skeletal | 100 % | 26264460 | 2017-01-06 | |
| Large ears | integumentary | 100 % | 26264460 | 2017-01-06 | |
| Thin lips | integumentary | 100 % | 26264460 | 2017-01-06 | |
| Feeding difficulties | digestive | 89 % | 26264460 | 2017-01-06 | |
| Vomiting | digestive | 89 % | 26264460 | 2017-01-06 | |
| Failure to thrive | multi | 78 % | 26264460 | 2017-01-06 | |
| Strabismus | nervous | 78 % | 26264460 | 2017-01-06 | |
| Seizures | nervous | 56 % | 26264460 | 2017-01-06 | |
| Corpus callosum thining | nervous | 11 % | 26264460 | 2017-01-06 | |
| Septum pellucidum defect | nervous | 11 % | 26264460 | 2017-01-06 | |
| Periventricular leukomalacia | nervous | 11 % | 26264460 | 2017-01-06 | |
| Horseshoe kidney | urinary | 11 % | 26264460 | 2017-01-06 |
List of references:
Expanding the Molecular and Clinical Phenotype of SSR4-CDG.
Bobby G Ng, Kimiyo Raymond, Martin Kircher, Kati J Buckingham, Tim Wood, Jay Shendure, Deborah A Nickerson, Michael J Bamshad, , Jonathan T S Wong, Fabiola Paoli Monteiro, Brett H Graham, Sheryl Jackson, Rebecca Sparkes, Angela E Scheuerle, Sara Cathey, Fernando Kok, James B Gibson, Hudson H Freeze,
Human mutation - Nov 2015