Congenital Disorder Of Glycosylation, Type Iaa; Cdg1aa
Genes related to Congenital Disorder Of Glycosylation, Type Iaa; Cdg1aa
Clinical FeaturesTop most frequent phenotypes and symptoms related to Congenital Disorder Of Glycosylation, Type Iaa; Cdg1aa
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
- Failure to thrive
- Visual impairment
- Intrauterine growth retardation
And another 5 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.)
— The onset for some of the known clinical features related to this disease may vary, including congenital onset .
Researches and researchersCurrently, 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.
Congenital Disorder Of Glycosylation, Type Iaa; Cdg1aa Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Epilepsy and Seizure Plus Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
RORB, RYR3, SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SGCE, ST3GAL3, ST3GAL5, SLC25A12, SLC2A1, SLC35A2, SLC35A3, SLC6A1, SLC6A8, SLC9A6, SMC1A , (...)
View the complete list with 202 more genes
By Fulgent Genetics Fulgent Genetics (United States).
You can get up to -6 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Search Engine
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MICROCEPHALY 4, PRIMARY, AUTOSOMAL RECESSIVE; MCPH4 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 54; EIEE54 EPILEPSY, IDIOPATHIC GENERALIZED; EIG