Epileptic encephalopathy, early infantile, 36,

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Prevalence (%) of clinical parameters based on data from 1 references describing 26 individuals

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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%)
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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