Mental Retardation, Autosomal Dominant 50; Mrd50
Genes related to Mental Retardation, Autosomal Dominant 50; Mrd50
Clinical FeaturesTop most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 50; Mrd50
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Growth delay
- Abnormal facial shape
- Feeding difficulties
- Delayed speech and language development
- Motor delay
And another 8 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 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.
Mental Retardation, Autosomal Dominant 50; Mrd50 Recommended genes panels
|Panel Name, Specifity and genes Tested/covered|
Autism Spectrum Disorders Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
SCN1A, SCN2A, SGSH, BRAF, SLC6A1, SLC9A6, SPAST, CDKL5, STXBP1, SYN2, TBR1, TCF20, TCF4, TSC1, TSC2, UBE3A, BCL11A, CNTNAP2, CACNA1C, CSMD1 , (...)
View the complete list with 85 more genes
Congenital Heart Defects Panel.
By CeGaT GmbH (Germany).
SEMA3E, TBX1, TBX20, TBX3, TBX5, TFAP2B, TLL1, ZIC3, ACTC1, CRELD1, GATA5, ZFPM2, TAB2, ACVR2B, CFC1, CITED2, CHD7, MED13L, NKX2-5, CFAP53 , (...)
View the complete list with 24 more genes
By Fulgent Genetics Fulgent Genetics (United States).
Congenital Structural Heart Disease Panel.
By Blueprint Genetics (Finland).
BMPR2, SOS2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZIC3, ACTA2, ACTB, ADAMTS10, NSD1, ACTC1, ACTG1, CRELD1, CBL, GATA5, SALL4, ZFPM2, TAB2 , (...)
View the complete list with 42 more genes
You can get up to -4 more panels with our dedicated toolLearn more
Sources and references
You can check the following sources for additional information.OMIM Rare Disease Search Engine
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