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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 |
| Developmental delay | nervous | 100 % | 32681751 | 2024-04-26 | |
| Mental retardation | nervous | 92 % | 32681751 | 2024-04-26 | |
| Seizures | nervous | 92 % | 32681751 | 2024-04-26 | |
| Hypsarrhythmia | nervous | 86 % | 32681751 | 2024-04-26 | |
| Hypotonia | nervous | 84 % | 32681751 | 2024-04-26 | |
| Visual impairment | nervous | 46 % | 32681751 | 2024-04-26 | |
| Facial dysmorphism | multi | 42 % | 32681751 | 2024-04-26 | |
| High arched palate | skeletal | 42 % | 32681751 | 2024-04-26 | |
| Reflux | digestive | 42 % | 32681751 | 2024-04-26 | |
| Vomiting | digestive | 42 % | 32681751 | 2024-04-26 | |
| Cerebral atrophy | nervous | 38 % | 32681751 | 2024-04-26 | |
| Scoliosis | skeletal | 23 % | 32681751 | 2024-04-26 | |
| Osteopenia | skeletal | 8 % | 32681751 | 2024-04-26 | |
| Corpus callosum thining | nervous | 8 % | 32681751 | 2024-04-26 | |
| Periventricular leukomalacia | nervous | 4 % | 32681751 | 2024-04-26 |
List of references:
Predominant and novel de novo variants in 29 individuals with ALG13 deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions.
Bobby G Ng, Erik A Eklund, Sergey A Shiryaev, Yin Y Dong, Mary-Alice Abbott, Carla Asteggiano, Michael J Bamshad, Eileen Barr, Jonathan A Bernstein, Shabeed Chelakkadan, John Christodoulou, Wendy K Chung, Michael A Ciliberto, Janice Cousin, Fiona Gardiner, Suman Ghosh, William D Graf, Stephanie Grunewald, Katherine Hammond, Natalie S Hauser, George E Hoganson, Kimberly M Houck, Jennefer N Kohler, Eva Morava, Austin A Larson, Pengfei Liu, Sujana Madathil, Colleen McCormack, Naomi J L Meeks, Rebecca Miller, Kristin G Monaghan, Deborah A Nickerson, Timothy Blake Palculict, Gabriela Magali Papazoglu, Beth A Pletcher, Ingrid E Scheffer, Andrea Beatriz Schenone, Rhonda E Schnur, Yue Si, Leah J Rowe, Alvaro H Serrano Russi, Rossana Sanchez Russo, Farouq Thabet, Allysa Tuite, María Mercedes Villanueva, Raymond Y Wang, Richard I Webster, Dorcas Wilson, Alice Zalan, , Lynne A Wolfe, Jill A Rosenfeld, Lindsay Rhodes, Hudson H Freeze,
Journal of inherited metabolic disease - Nov 2020