Muscular Dystrophy-Dystroglycanopathy (Congenital with Brain and Eye Anomalies), Type A, 12
MDDGA12

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Prevalence (%) of clinical parameters based on data from 1 references describing 2 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
Increased blood CK circulatory 100 % 37766827 2024-06-14
Disequilibrium nervous 100 % 37766827 2024-04-30
Dystrophic muscles skeletal 100 % 37766827 2024-04-30
Hypotonia nervous 100 % 37766827 2024-04-30
Speech delay nervous 100 % 37766827 2024-04-30
Mental retardation nervous 100 % 37766827 2024-04-30
Developmental delay multi 100 % 37766827 2024-04-30
Muscle weakness skeletal 100 % 37766827 2024-04-30
Cerebral atrophy nervous 50 % 37766827 2024-04-30
Hydrocephalus nervous 50 % 37766827 2024-04-30
Cobblestone lissencephaly nervous 50 % 37766827 2024-04-30
Mega cisterna magna nervous 50 % 37766827 2024-04-30
Contracture nervous 50 % 37766827 2024-04-30
Blindness nervous 50 % 37766827 2024-04-30
Visual impairment nervous 50 % 37766827 2024-04-30
Glaucoma nervous 50 % 37766827 2024-04-30
Seizures nervous 50 % 37766827 2024-04-30



List of references:


DPAGT1-CDG: Report of Two New Pediatric Patients and Brief Review of the Literature.
Özlem Özsoy, Tayfun Cinleti, Çağatay Günay, Gamze Sarıkaya Uzan, Mehmet Can Yeşilmen, Hanns Lochmüller, Rita Horvath, Uluç Yiş, Yavuz Oktay, Semra Hiz Kurul,



Molecular syndromology - Aug 2023