Monosomy 5p, also known as Cri du chat syndrome, is a rare autosomal deletion syndrome characterized by a mewing cry (cri du chat) in infancy, multiple congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.
Genes related to Monosomy 5p
Clinical FeaturesTop most frequent phenotypes and symptoms related to Monosomy 5p
- Short stature
- Muscular hypotonia
- High palate
- Wide nasal bridge
- Intrauterine growth retardation
- Downslanted palpebral fissures
And another 17 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.
Monosomy 5p Is also known as cri du chat syndrome, deletion 5p.
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.
Monosomy 5p 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
Autism Spectrum Disorders Panel.
By Blueprint Genetics (Finland).
RPL10, TCF20, TRIP12, TSC1, TSC2, BCL11A, CACNA1C, NSD1, NLGN4X, NLGN3, SHANK3, ADNP, POGZ, CNTN6, COL4A3BP, KMT5B, CTNND2, PTCHD1, DHCR7, CC2D1A , (...)
View the complete list with 6 more genes
PROGRESSIVE MYOCLONIC EPILEPSY/GEFs+ NGS PANEL.
By Laboratorio de Genetica Clinica SL (Spain).
SCN1A, SCN1B, SCN2A, SCN9A, SGCE, SLC6A1, STXBP1, CACNB4, CERS1, PCDH19, ARHGEF9, EFHC1, SCARB2, PRICKLE1, ADGRV1, ARX, STX1B, CHD2, CLCN2, PRICKLE2 , (...)
View the complete list with 24 more genes
By Fulgent Genetics Fulgent Genetics (United States).
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.ORPHANET Rare Disease Search Engine
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