Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability; Mdccaid
Description
MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).
Genes related to Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability; Mdccaid
- INPP5K
Clinical Features
Top most frequent phenotypes and symptoms related to Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability; Mdccaid
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Scoliosis
- Strabismus
- Muscle weakness
- Cataract
And another 26 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability; Mdccaid Recommended genes panels
| Panel Name, Specifity and genes Tested/covered |
|---|
 INPP5K.
By Fulgent Genetics Fulgent Genetics (United States).
INPP5K
Specificity
100 %
Genes
100 % |
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Learn moreSources and references
You can check the following sources for additional information.
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