Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability |
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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 |
| Muscle weakness | multi | 100 % | 28190456 | 2024-05-01 | |
| Hypotonia | nervous | 92 % | 28190456 | 2024-05-01 | |
| Elevated creatine kinase (CK) levels | circulatory | 83 % | 28190456 | 2024-05-01 | |
| Developmental delay | nervous | 83 % | 28190456 | 2024-05-01 | |
| Muscle atrophy | skeletal | 67 % | 28190456 | 2024-05-01 | |
| Mental retardation | nervous | 67 % | 28190456 | 2024-05-01 | |
| Myopathy | skeletal | 58 % | 28190456 | 2024-05-01 | |
| Contracture | nervous | 42 % | 28190456 | 2024-05-01 | |
| Microcephaly | nervous | 25 % | 28190456 | 2024-05-01 | |
| Cataract | nervous | 17 % | 28190456 | 2024-05-01 | |
| Scoliosis | skeletal | 17 % | 28190456 | 2024-05-01 | |
| Spinal rigidity | skeletal | 17 % | 28190456 | 2024-05-01 | |
| Kyphosis | skeletal | 17 % | 28190456 | 2024-05-01 | |
| Brainstem atrophy | nervous | 8 % | 28190456 | 2024-05-01 | |
| Hypogonadism | reproductive | 8 % | 28190456 | 2024-05-01 | |
| Hyperlaxity | integumentary | 8 % | 28190456 | 2024-05-01 | |
| Tremor | nervous | 8 % | 28190456 | 2024-05-01 | |
| Seizures | nervous | 8 % | 28190456 | 2024-05-01 |
List of references:
Mutations in INPP5K, Encoding a Phosphoinositide 5-Phosphatase, Cause Congenital Muscular Dystrophy with Cataracts and Mild Cognitive Impairment.
Manuela Wiessner, Andreas Roos, Christopher J Munn, Ranjith Viswanathan, Tamieka Whyte, Dan Cox, Benedikt Schoser, Caroline Sewry, Helen Roper, Rahul Phadke, Chiara Marini Bettolo, Rita Barresi, Richard Charlton, Carsten G Bönnemann, Osório Abath Neto, Umbertina C Reed, Edmar Zanoteli, Cristiane Araújo Martins Moreno, Birgit Ertl-Wagner, Rolf Stucka, Christian De Goede, Tamiris Borges da Silva, Denisa Hathazi, Margherita Dell'Aica, René P Zahedi, Simone Thiele, Juliane Müller, Helen Kingston, Susanna Müller, Elizabeth Curtis, Maggie C Walter, Tim M Strom, Volker Straub, Kate Bushby, Francesco Muntoni, Laura E Swan, Hanns Lochmüller, Jan Senderek,
American journal of human genetics - Mar 2017