Muscular Dystrophy, Congenital, with Cataracts and Intellectual Disability
MDCCAID

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Prevalence (%) of clinical parameters based on data from 1 references describing 12 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
Muscle weakness multi 100 % 28190456 2024-05-01
Hypotonia nervous 92 % 28190456 2024-05-01
Increased blood CK circulatory 83 % 28190456 2024-06-14
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