Adnp Syndrome
Description
ADNP syndrome is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, global developmental delay, severely delayed speech, behavioral problems, pain insensitivity, sleep problems, seizures, structural brain anomalies, dysmorphic features, visual problems and autism.
Clinical Features
Top most frequent phenotypes and symptoms related to Adnp Syndrome
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
- Strabismus
- Abnormal facial shape
- Muscular hypotonia
- Cataract
And another 59 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.
Alternative names
Adnp Syndrome Is also known as adnp-related syndromic intellectual disability-autism spectrum disorder, hvdas, mental retardation, autosomal dominant 28, mrd28, helsmoortel-van der aa syndrome.
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.Adnp Syndrome Recommended genes panels
Panel Name, Specifity and genes Tested/covered |
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![]() By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).
SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)
View the complete list with 63 more genes
Specificity
2 %
Genes
100 % |
![]() 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 % |
![]() 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 % |
![]() 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 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
100 % |
![]() By Genetic Services Laboratory University of Chicago (United States).
SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SOX11, ADNP, ARID1B, PHF6, ANKRD11, TBC1D24
Specificity
10 %
Genes
100 % |
![]() 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 % |
![]() By Ambry Genetics (United States).
SCN2A, SLC6A8, SLC9A6, SMC1A, CDKL5, SYNGAP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, CACNA1C, NSD1, PCDH19, NLGN4X, NLGN3, SHANK3 , (...)
View the complete list with 28 more genes
Specificity
3 %
Genes
100 % |
You can get up to 14 more panels with our dedicated tool
Learn moreSources and references
You can check the following sources for additional information.
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