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Prevalence (%) of clinical parameters based on data from 1 references describing 8 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 |
| Gait disturbances | nervous | 100 % | 36791574 | 2023-10-09 | |
| Short stature | multi | 100 % | 36791574 | 2023-10-09 | |
| Developmental delay | multi | 100 % | 36791574 | 2023-10-09 | |
| Areflexia | nervous | 75 % | 36791574 | 2023-10-09 | |
| Neuropathy | nervous | 75 % | 36791574 | 2023-10-09 | |
| Muscle weakness | skeletal | 71 % | 36791574 | 2023-10-09 | |
| Vitamin D deficiency | multi | 67 % | 36791574 | 2023-10-09 | |
| Tremor | nervous | 63 % | 36791574 | 2023-10-09 | |
| Hypotonia | skeletal | 63 % | 36791574 | 2023-10-09 | |
| Facial dysmorphism | skeletal | 57 % | 36791574 | 2023-10-09 | |
| Dental caries | digestive | 57 % | 36791574 | 2023-10-09 | |
| Cerebellar atrophy | nervous | 50 % | 36791574 | 2023-10-09 | |
| Contracture | skeletal | 50 % | 36791574 | 2023-10-09 | |
| Microcephaly | skeletal | 50 % | 36791574 | 2023-10-09 | |
| Hypertonia | skeletal | 38 % | 36791574 | 2023-10-09 | |
| Scoliosis | skeletal | 25 % | 36791574 | 2023-10-09 | |
| Constipation | digestive | 25 % | 36791574 | 2023-10-09 | |
| Seizures | nervous | 13 % | 36791574 | 2023-10-09 | |
| Cataract | nervous | 13 % | 36791574 | 2023-10-09 | |
| Precocious puberty | endocrine | 13 % | 36791574 | 2023-10-09 |
List of references:
The Spectrum of MORC2-Related Disorders: A Potential Link to Cockayne Syndrome.
Seth A Stafki, Johnnie Turner, Hannah R Littel, Christine C Bruels, Don Truong, Ursula Knirsch, Georg M Stettner, Urs Graf, Wolfgang Berger, Maria Kinali, Heinz Jungbluth, Christina A Pacak, Jayne Hughes, Amytice Mirchi, Alexa Derksen, Catherine Vincent-Delorme, Arjan F Theil, Geneviève Bernard, David Ellis, Hiva Fassihi, Alan R Lehmann, Vincent Laugel, Shehla Mohammed, Peter B Kang,
Pediatric neurology - Apr 2023