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Prevalence (%) of clinical parameters based on data from 1 references describing 12 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 |
| Facial dysmorphism | multi | 92 % | 31481313 | 2024-05-01 | |
| Psychomotor retardation | nervous | 83 % | 31481313 | 2024-05-01 | |
| Hypotonia | nervous | 83 % | 31481313 | 2024-05-01 | |
| Coagulopathy | circulatory | 75 % | 31481313 | 2024-05-01 | |
| Short stature | endocrine | 75 % | 31481313 | 2024-05-01 | |
| Speech delay | nervous | 58 % | 31481313 | 2024-05-01 | |
| Seizures | nervous | 58 % | 31481313 | 2024-05-01 | |
| Visual impairment | nervous | 58 % | 31481313 | 2024-05-01 | |
| Recurrent infections | lymphatic | 58 % | 31481313 | 2024-05-01 | |
| Hypogammaglobulinemia | circulatory | 58 % | 31481313 | 2024-05-01 | |
| Renal agenesis | urinary | 42 % | 31481313 | 2024-05-01 | |
| Microcephaly | nervous | 33 % | 31481313 | 2024-05-01 | |
| Ventricular enlargement brain | nervous | 33 % | 31481313 | 2024-05-01 | |
| Broad nasal bridge | skeletal | 25 % | 31481313 | 2024-05-01 | |
| Increased blood transaminase | circulatory | 25 % | 31481313 | 2024-05-01 | |
| Micropenis | reproductive | 25 % | 31481313 | 2024-05-01 | |
| Hearing loss | nervous | 25 % | 31481313 | 2024-05-01 | |
| Triangular face | multi | 25 % | 31481313 | 2024-05-01 | |
| Cerebellum hypoplasia | nervous | 17 % | 31481313 | 2024-05-01 | |
| Corpus callosum agenesis | nervous | 17 % | 31481313 | 2024-05-01 | |
| Thin lips | integumentary | 17 % | 31481313 | 2024-05-01 | |
| Hypoalbuminemia | circulatory | 16 % | 31481313 | 2024-05-01 | |
| Hypocholesterolemia | circulatory | 16 % | 31481313 | 2024-05-01 | |
| Hypoglycemia | endocrine | 16 % | 31481313 | 2024-05-01 | |
| Reflux | digestive | 16 % | 31481313 | 2024-05-01 | |
| Persistent ductus arteriosus | circulatory | 16 % | 31481313 | 2024-05-01 | |
| Cryptorchidism | reproductive | 16 % | 31481313 | 2024-05-01 | |
| Hypospadias | reproductive | 16 % | 31481313 | 2024-05-01 | |
| Finger deformity | multi | 16 % | 31481313 | 2024-05-01 | |
| Talipes equinovarus | multi | 16 % | 31481313 | 2024-05-01 | |
| Midfacial hypoplasia | multi | 8 % | 31481313 | 2024-05-01 | |
| Micrognathia | skeletal | 8 % | 31481313 | 2024-05-01 | |
| Strabismus | nervous | 8 % | 31481313 | 2024-05-01 | |
| Posterior plagiocephaly | nervous | 8 % | 31481313 | 2024-05-01 | |
| Pachygyria | nervous | 8 % | 31481313 | 2024-05-01 | |
| Scoliosis | skeletal | 8 % | 31481313 | 2024-05-01 | |
| Nail hypoplasia | integumentary | 8 % | 31481313 | 2024-05-01 | |
| Thrombocytopenia | circulatory | 8 % | 31481313 | 2024-05-01 | |
| Decreased serum IGF-1 | endocrine | 8 % | 31481313 | 2024-05-01 | |
| Persistent foramen ovale | circulatory | 8 % | 31481313 | 2024-05-01 | |
| Prominent cavum septum pellucidum | nervous | 8 % | 31481313 | 2024-05-01 | |
| Retarded myelination | nervous | 8 % | 31481313 | 2024-05-01 | |
| Smooth philtrum | multi | 8 % | 31481313 | 2024-05-01 |
List of references:
Complex phenotypes in ALG12-congenital disorder of glycosylation (ALG12-CDG): Case series and review of the literature.
Shawn Tahata, Lauren Gunderson, Brendan Lanpher, Eva Morava,
Molecular genetics and metabolism - Dec 2019