Muscular Dystrophy-Dystroglycanopathy(Congenital with Brain and Eye Anomalies), Type A, 13
MDDGA13

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Prevalence (%) of clinical parameters based on data from 1 references describing 3 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
Ventricular enlargement brain nervous 100 % 34587870 2024-04-30
Lissencephaly nervous 67 % 34587870 2024-04-30
Seizures nervous 33 % 34587870 2024-04-30
Corpus callosum agenesis nervous 33 % 34587870 2024-04-30
Absent pyramidal tract nervous 33 % 34587870 2024-04-30
Vermis hypoplasia nervous 33 % 34587870 2024-04-30
Occipital encephalocele nervous 33 % 34587870 2024-04-30
Anencephaly nervous 33 % 34587870 2024-04-30
Hydrocephalus nervous 33 % 34587870 2024-04-30
Cerebellar atrophy nervous 33 % 34587870 2024-04-30
Brainstem atrophy nervous 33 % 34587870 2024-04-30
Neuroepithelial heterotopias nervous 33 % 34587870 2024-04-30
Cryptorchidism reproductive 33 % 34587870 2024-04-30
Micropenis reproductive 33 % 34587870 2024-04-30
Blindness nervous 33 % 34587870 2024-04-30
Visual impairment nervous 33 % 34587870 2024-04-30
Retinal dysplasias nervous 33 % 34587870 2024-04-30
Cataract nervous 33 % 34587870 2024-04-30
Proptosis nervous 33 % 34587870 2024-04-30
Optic nerve atrophy nervous 33 % 34587870 2024-04-30
Hydronephrosis urinary 33 % 34587870 2024-04-30
Kidney cysts urinary 33 % 34587870 2024-04-30
Increased blood CK circulatory 33 % 34587870 2024-06-14



List of references:


Gene Associated Congenital Muscular Dystrophy Presenting with Recurrent Severe Ventriculomegaly: Case Report and Review of Literature.
Meenakshi Lallar, Ladbans Kaur, Meetan Preet, U P Singh,



Fetal and pediatric pathology - Oct 2022