Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 9
MDDGA9

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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%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Respiratory failure respiratory 100 % 25934851 2024-05-14
Hydrocephalus nervous 60 % 25934851 2024-05-14
Elevated creatine kinase (CK) levels circulatory 60 % 25934851 2024-05-14
Brain calcifications nervous 40 % 25934851 2024-05-14
Areflexia nervous 40 % 25934851 2024-05-14
Microphthalmia nervous 20 % 25934851 2024-05-14
Corneal opacities nervous 20 % 25934851 2024-05-14
Glaucoma nervous 20 % 25934851 2024-05-14
Proptosis nervous 20 % 25934851 2024-05-14
Hypotonia nervous 20 % 25934851 2024-05-14
Occipital encephalocele nervous 20 % 25934851 2024-05-14
Hypertonia nervous 20 % 25934851 2024-05-14
Psychomotor retardation nervous 20 % 25934851 2024-05-14
Myopathy skeletal 20 % 25934851 2024-05-14



List of references:


Absence of α- and β-dystroglycan is associated with Walker-Warburg syndrome.
Moniek Riemersma, Hanna Mandel, Ellen van Beusekom, Isabella Gazzoli, Tony Roscioli, Ayelet Eran, Ruth Gershoni-Baruch, Moran Gershoni, Shmuel Pietrokovski, Lisenka E Vissers, Dirk J Lefeber, Michèl A Willemsen, Ron A Wevers, Hans van Bokhoven,



Neurology - May 2015