Developmental Delay and Seizures with or without Movement Abnormalities |
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Prevalence (%) of clinical parameters based on data from 1 references describing 5 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%) | ||
| 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 | 80 % | 29100083 | 2024-05-13 | |
| Seizures | nervous | 80 % | 29100083 | 2024-05-13 | |
| Optic nerve atrophy | nervous | 80 % | 29100083 | 2024-05-13 | |
| Visual impairment | nervous | 80 % | 29100083 | 2024-05-13 | |
| Mental retardation | nervous | 80 % | 29100083 | 2024-05-13 | |
| Autism | nervous | 60 % | 29100083 | 2024-05-13 | |
| Microcephaly | nervous | 60 % | 29100083 | 2024-05-13 | |
| Hypotonia | nervous | 60 % | 29100083 | 2024-05-13 | |
| Encephalopathy | nervous | 40 % | 29100083 | 2024-05-13 | |
| Dysphagia | digestive | 40 % | 29100083 | 2024-05-13 | |
| High tolerance to painful stimuli | nervous | 40 % | 29100083 | 2024-05-13 | |
| Hypsarrhythmia | nervous | 20 % | 29100083 | 2024-05-13 | |
| Temporal intermittent rhythmic delta activity | nervous | 20 % | 29100083 | 2024-05-13 | |
| Retarded myelination | nervous | 20 % | 29100083 | 2024-05-13 | |
| White matter atrophy | nervous | 20 % | 29100083 | 2024-05-13 | |
| Ventricular enlargement brain | nervous | 20 % | 29100083 | 2024-05-13 | |
| Corpus callosum agenesis | nervous | 20 % | 29100083 | 2024-05-13 | |
| Muscle weakness | multi | 20 % | 29100083 | 2024-05-13 | |
| Hyperactive reflexes | nervous | 20 % | 29100083 | 2024-05-13 | |
| Choreoathetosis | nervous | 20 % | 29100083 | 2024-05-13 | |
| Feeding difficulties | digestive | 20 % | 29100083 | 2024-05-13 |
List of references:
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Fadi F Hamdan, Candace T Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion, Sylvia Dobrzeniecka, Caroline Meloche, Kyle Retterer, Megan T Cho, Jill A Rosenfeld, Weimin Bi, Christine Massicotte, Marguerite Miguet, Ledia Brunga, Brigid M Regan, Kelly Mo, Cory Tam, Amy Schneider, Georgie Hollingsworth, , David R FitzPatrick, Alan Donaldson, Natalie Canham, Edward Blair, Bronwyn Kerr, Andrew E Fry, Rhys H Thomas, Joss Shelagh, Jane A Hurst, Helen Brittain, Moira Blyth, Robert Roger Lebel, Erica H Gerkes, Laura Davis-Keppen, Quinn Stein, Wendy K Chung, Sara J Dorison, Paul J Benke, Emily Fassi, Nicole Corsten-Janssen, Erik-Jan Kamsteeg, Frederic T Mau-Them, Ange-Line Bruel, Alain Verloes, Katrin Õunap, Monica H Wojcik, Dara V F Albert, Sunita Venkateswaran, Tyson Ware, Dean Jones, Yu-Chi Liu, Shekeeb S Mohammad, Peyman Bizargity, Carlos A Bacino, Vincenzo Leuzzi, Simone Martinelli, Bruno Dallapiccola, Marco Tartaglia, Lubov Blumkin, Klaas J Wierenga, Gabriela Purcarin, James J O'Byrne, Sylvia Stockler, Anna Lehman, Boris Keren, Marie-Christine Nougues, Cyril Mignot, Stéphane Auvin, Caroline Nava, Susan M Hiatt, Martina Bebin, Yunru Shao, Fernando Scaglia, Seema R Lalani, Richard E Frye, Imad T Jarjour, Stéphanie Jacques, Renee-Myriam Boucher, Emilie Riou, Myriam Srour, Lionel Carmant, Anne Lortie, Philippe Major, Paola Diadori, François Dubeau, Guy D'Anjou, Guillaume Bourque, Samuel F Berkovic, Lynette G Sadleir, Philippe M Campeau, Zoha Kibar, Ronald G Lafrenière, Simon L Girard, Saadet Mercimek-Mahmutoglu, Cyrus Boelman, Guy A Rouleau, Ingrid E Scheffer, Heather C Mefford, Danielle M Andrade, Elsa Rossignol, Berge A Minassian, Jacques L Michaud,
American journal of human genetics - Nov 2017