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Prevalence (%) of clinical parameters based on data from 1 references describing 26 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 | 54 % | 37766827 | 2024-04-30 | |
| Seizures | nervous | 50 % | 37766827 | 2024-04-30 | |
| Microcephaly | nervous | 27 % | 37766827 | 2024-04-30 | |
| Hypothermia | nervous | 19 % | 37766827 | 2024-04-30 | |
| Scoliosis | skeletal | 15 % | 37766827 | 2024-04-30 | |
| Speech delay | nervous | 12 % | 37766827 | 2024-04-30 | |
| Strabismus | nervous | 12 % | 37766827 | 2024-04-30 | |
| Hypertrichosis | integumentary | 12 % | 37766827 | 2024-04-30 | |
| Cerebral atrophy | nervous | 12 % | 37766827 | 2024-04-30 | |
| Feeding difficulties | digestive | 8 % | 37766827 | 2024-04-30 | |
| Pes planus | skeletal | 8 % | 37766827 | 2024-04-30 | |
| High arched palate | skeletal | 8 % | 37766827 | 2024-04-30 | |
| Cryptorchidism | reproductive | 8 % | 37766827 | 2024-04-30 | |
| Arthrogryposis | nervous | 8 % | 37766827 | 2024-04-30 | |
| Respiratory failure | respiratory | 8 % | 37766827 | 2024-04-30 | |
| Intracranial haemorrhage | nervous | 8 % | 37766827 | 2024-04-30 | |
| Areflexia | nervous | 8 % | 37766827 | 2024-04-30 | |
| Disequilibrium | nervous | 8 % | 37766827 | 2024-04-30 | |
| Akinesia | nervous | 8 % | 37766827 | 2024-04-30 | |
| Autism | nervous | 8 % | 37766827 | 2024-04-30 | |
| Hallux valgus | skeletal | 4 % | 37766827 | 2024-04-30 | |
| Night blindness | nervous | 4 % | 37766827 | 2024-04-30 | |
| Clinodactyly | skeletal | 4 % | 37766827 | 2024-04-30 | |
| Anemia | circulatory | 4 % | 37766827 | 2024-04-30 | |
| Facial dysmorphism | multi | 4 % | 37766827 | 2024-04-30 | |
| Muscle weakness | multi | 4 % | 37766827 | 2024-04-30 | |
| non-walking | multi | 4 % | 37766827 | 2024-04-30 | |
| Hypertonia | nervous | 4 % | 37766827 | 2024-04-30 | |
| Syndactyly | skeletal | 4 % | 37766827 | 2024-04-30 | |
| Small mouth | integumentary | 4 % | 37766827 | 2024-04-30 | |
| Full lips | integumentary | 4 % | 37766827 | 2024-04-30 | |
| Micrognathia | skeletal | 4 % | 37766827 | 2024-04-30 |
List of references:
DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.
Özlem Özsoy, Tayfun Cinleti, Çağatay Günay, Gamze Sarıkaya Uzan, Mehmet Can Yeşilmen, Hanns Lochmüller, Rita Horvath, Uluç Yiş, Yavuz Oktay, Semra Hiz Kurul,
Molecular syndromology - Aug 2023