| Contact us | |
| Return to database |
Prevalence (%) of clinical parameters based on data from 1 references describing 7 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 |
| Mental retardation | nervous | 100 % | 24348268 | 2017-01-06 | |
| Developmental delay | nervous | 100 % | 24348268 | 2017-01-06 | |
| Hypotonia | nervous | 100 % | 24348268 | 2017-01-06 | |
| Downward sloping palpebral apertures | skeletal | 100 % | 24348268 | 2017-01-06 | |
| Large ears | integumentary | 100 % | 24348268 | 2017-01-06 | |
| Thin lips | integumentary | 100 % | 24348268 | 2017-01-06 | |
| Obesity | multi | 100 % | 24348268 | 2017-01-06 | |
| Increase of serum trisialotransferrin | circulatory | 100 % | 24348268 | 2017-01-06 | |
| Hypertelorism | skeletal | 86 % | 24348268 | 2017-01-06 | |
| Hypoplastic nasolabial fold | integumentary | 71 % | 24348268 | 2017-01-06 | |
| Cutis laxa | integumentary | 71 % | 24348268 | 2017-01-06 | |
| Inverted nipples | integumentary | 57 % | 24348268 | 2017-01-06 | |
| Hypermobile joints | skeletal | 57 % | 24348268 | 2017-01-06 | |
| Aggressive outbursts | nervous | 14 % | 24348268 | 2017-01-06 | |
| Autism | nervous | 14 % | 24348268 | 2017-01-06 | |
| Seizures | nervous | 14 % | 24348268 | 2017-01-06 | |
| Cerebellar atrophy | nervous | 14 % | 24348268 | 2017-01-06 |
List of references:
MAN1B1 deficiency: an unexpected CDG-II.
Daisy Rymen, Romain Peanne, María B Millón, Valérie Race, Luisa Sturiale, Domenico Garozzo, Philippa Mills, Peter Clayton, Carla G Asteggiano, Dulce Quelhas, Ali Cansu, Esmeralda Martins, Marie-Cécile Nassogne, Miguel Gonçalves-Rocha, Haluk Topaloglu, Jaak Jaeken, François Foulquier, Gert Matthijs,
PLoS genetics - 2013