Mental Retardation, Autosomal Dominant 27; Mrd27
Genes related to Mental Retardation, Autosomal Dominant 27; Mrd27
- SOX11
Clinical Features
Top most frequent phenotypes and symptoms related to Mental Retardation, Autosomal Dominant 27; Mrd27
- Intellectual disability
- Short stature
- Microcephaly
- Growth delay
- Abnormal facial shape
- Ptosis
- Low-set ears
- Depressed nasal bridge
- Intrauterine growth retardation
- Anteverted nares
And another 25 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.Mental Retardation, Autosomal Dominant 27; Mrd27 Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
---|
Coffin-Siris Syndrome Panel.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, BTD, HDAC8, ADNP, ARID2, ARID1B, PHF6, ANKRD11, SMC3, PIGV, NIPBL, TBC1D24, HELLS, KMT2D , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Cornelia de Lange Syndrome PLUS Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24, EP300 , (...)
View the complete list with 1 more genes
Specificity
5 %
Genes
100 % |
Non-Specific Intellectual Disability Panel.
By Genetic Services Laboratory University of Chicago (United States).
RPS6KA3, CLIP1, SCN2A, ST3GAL3, SLC16A2, SLC25A1, SLC6A8, SLC9A6, SMARCA4, SMARCB1, ARID1A, SMC1A, KDM5C, SMS, SOX11, CDKL5, STXBP1, SYN1, SYNGAP1, SYP , (...)
View the complete list with 153 more genes
Specificity
1 %
Genes
100 % |
Coffin-Siris syndrome Sequencing Panel.
By Genetic Services Laboratory University of Chicago (United States).
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
100 % |
Coffin-Siris syndrome Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
100 % |
Cornelia de Lange PLUS Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
ROR2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A, SOX11, WNT5A, HDAC8, ADNP, AFF4, ARID1B, PHF6, ANKRD11, CREBBP, SMC3, ESCO2, NIPBL, TBC1D24 , (...)
View the complete list with 2 more genes
Specificity
5 %
Genes
100 % |
Microcephaly Deletion/Duplication Panel.
By Genetic Services Laboratory University of Chicago (United States).
STIL, SLC1A4, SLC2A1, SLC9A6, SOX11, PLK4, CDKL5, TCF4, UBE3A, USP18, WWOX, RAB18, CRIPT, SLC25A19, ZEB2, NIN, PPP1R15B, CASK, TSEN34, ZNF335 , (...)
View the complete list with 59 more genes
Specificity
2 %
Genes
100 % |
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection.
By PreventionGenetics PreventionGenetics (United States).
ROBO2, SALL1, BMP4, BMP7, SIX1, SIX2, SIX5, SOX11, TBX18, HNF1B, UMOD, UPK3A, WNT4, TRAP1, SRGAP1, CDC5L, SOX17, HPSE2, GRIP1, CHD1L , (...)
View the complete list with 27 more genes
Specificity
3 %
Genes
100 % |
You can get up to 5 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
OMIM Rare Disease Symptoms CheckerIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 3; ICF3 DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES; DYTOABG FANCONI ANEMIA, COMPLEMENTATION GROUP D1; FANCD1 CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE E; CMTDIE COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 15; COXPD15