Autism, Susceptibility To, X-linked 3; Autsx3

Description

Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypic, and ritualized patterns of interests and behavior (Bailey et al., 1996; Risch et al., 1999). 'Autism spectrum disorder,' sometimes referred to as ASD, is a broader phenotype encompassing the less severe disorders Asperger syndrome (see ASPG1; {608638}) and pervasive developmental disorder, not otherwise specified (PDD-NOS). 'Broad autism phenotype' includes individuals with some symptoms of autism, but who do not meet the full criteria for autism or other disorders. Mental retardation coexists in approximately two-thirds of individuals with ASD, except for Asperger syndrome, in which mental retardation is conspicuously absent (Jones et al., 2008). Genetic studies in autism often include family members with these less stringent diagnoses (Schellenberg et al., 2006).For a discussion of genetic heterogeneity of autism, see {209850}.

Clinical Features

Top most frequent phenotypes and symptoms related to Autism, Susceptibility To, X-linked 3; Autsx3

  • Intellectual disability
  • Seizures
  • Delayed speech and language development
  • Atrial septal defect
  • Autism
  • EEG abnormality
  • Autistic behavior
  • Stereotypy
  • Increased serum serotonin
  • Impaired use of nonverbal behaviors

And another 5 symptoms. If you need more information about this disease we can help you.

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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.


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Autism, Susceptibility To, X-linked 3; Autsx3 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®Plus aCGH Analysis.

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RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

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Specificity
1 %
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100 %
MECP2 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MECP2
Specificity
100 %
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100 %
MECP2 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MECP2
Specificity
100 %
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100 %
MECP2 Deletion/Duplication Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

MECP2
Specificity
100 %
Genes
100 %
MECP2 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

MECP2
Specificity
100 %
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100 %
MECP2 Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

MECP2
Specificity
100 %
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100 %
MECP2 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

MECP2
Specificity
100 %
Genes
100 %
PreSeek Non-invasive Prenatal Gene Sequencing Screen.

By Baylor Miraca Genetics Laboratories (United States).

RIT1, BRAF, SMC1A, SOS1, SOS2, CDKL5, SYNGAP1, TSC1, TSC2, HDAC8, NSD1, CBL, SHOC2, CHD7, COL1A2, SMC3, NIPBL, FGFR2, FGFR3, HRAS , (...)

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Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM Rare Disease Symptoms Checker

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