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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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 |
| Short stature | multi | 100 % | 30905398 | 2022-11-17 | |
| Decreased subcutaneous fat | integumentary | 100 % | 30905398 | 2022-11-17 | |
| Microcephaly | nervous | 100 % | 30905398 | 2022-11-17 | |
| Skin atrophy | integumentary | 100 % | 30905398 | 2022-11-17 | |
| Triangular face | skeletal | 100 % | 30905398 | 2022-11-17 | |
| Prominent veins | circulatory | 100 % | 30905398 | 2022-11-17 | |
| Convex nasal bridge | skeletal | 100 % | 30905398 | 2022-11-17 | |
| Hypodontia | skeletal | 100 % | 30905398 | 2022-11-17 | |
| Wormian bones | skeletal | 100 % | 30905398 | 2022-11-17 | |
| Hypoplastic or absent clavicles | skeletal | 100 % | 30905398 | 2022-11-17 | |
| Micrognathia | skeletal | 100 % | 30905398 | 2022-11-17 | |
| Tremor | nervous | 100 % | 30905398 | 2022-11-17 | |
| Lipodystrophy | integumentary | 100 % | 30905398 | 2022-11-17 | |
| Delayed dental development | skeletal | 100 % | 30905398 | 2022-11-17 | |
| Dental crowding | skeletal | 100 % | 30905398 | 2022-11-17 | |
| Proptosis | nervous | 100 % | 30905398 | 2022-11-17 | |
| Osteoporosis | skeletal | 50 % | 30905398 | 2022-11-17 | |
| Hypomyelination | nervous | 50 % | 30905398 | 2022-11-17 |
List of references:
The Discovery of a LEMD2-Associated Nuclear Envelopathy with Early Progeroid Appearance Suggests Advanced Applications for AI-Driven Facial Phenotyping.
Felix Marbach, Cecilie F Rustad, Angelika Riess, Dejan Đukić, Tzung-Chien Hsieh, Itamar Jobani, Trine Prescott, Andrea Bevot, Florian Erger, Gunnar Houge, Maria Redfors, Janine Altmueller, Tomasz Stokowy, Christian Gilissen, Christian Kubisch, Emanuela Scarano, Laura Mazzanti, Torunn Fiskerstrand, Peter M Krawitz, Davor Lessel, Christian Netzer,
American journal of human genetics - Apr 2019