Overview
Resources
Symptoms
Subtypes
Other Names
Therapies
Associated Disorders
Videos
Associated Genes

Autism Spectrum Disorder Overview

Symptoms of Autism Spectrum Disorders

Diagnostic Criteria from the CDC

Regression or loss of previously

Subtypes

Other Names

Therapies

Video Resources

https://youtu.be/-olAoobip5A

Associated Genes

  • ACSL4
  • ADNP
  • AFF2- Fragile X Syndrome 2
  • ANKRD11- 16q24.3
  • ANK2
  • ARX- Neurodevelopmental Disorders
  • ASH1L
  • ASTN2- 9q33.1
  • BRAF-Noonan Syndrome, Cardiofaciocutaneous Syndrome
  • BRWD3
  • BCL11A
  • CACNA1C
  • CACNA1H- 16p13.3
  • CADM1-11q23.3
  • CAMK2A
  • CAMK2B
  • CC2D1A
  • CELFA
  • CHAMP1
  • CHD2
  • CHD3
  • CHD8
  • CIC
  • CREBBP
  • C12ORF4
  • CNOT3
  • CNTN4-3p26.3-26.2
  • CNTNAP2-7q35-36.1
  • CNTNAP5-2q14.3
  • CNTN6
  • COL4A3BP
  • CSNK2A1
  • CTNNB1
  • CTNND2
  • CXCR3-Xq13.1
  • DHCR7
  • DIAPH3-13q21.2
  • DLGAP2-8p23.3
  • DLL1
  • DPP6-7q35-36.1
  • DPP10-7q36.2
  • DYRK1A
  • EHMT1
  • EIF3F
  • ELP2
  • EN2
  • FABP5-8q21.13
  • FABP7-6q22.31
  • FBXO11
  • FBXO40-3q13.33
  • FMR1
  • FOXP1-3p13
  • FOXP2
  • FRMPD4-Xp22.1
  • GABRB3
  • GAMT
  • GLRA2-Xp22.2
  • GRIA2
  • GRIA3
  • GRIND2A-16p13.2
  • GRIND2B-12p13.1
  • GRPR-Xp22.2
  • HECW2
  • HNRNPH2-Xq22.1
  • KCNMA1- 10q22.3
  • KDM5C
  • KMT2C
  • KMT2E
  • KMT5B
  • MAGEL2
  • MAOA
  • MBD1-18q21.1
  • MBD3-19p13.3
  • MBD4-3q21.3
  • MBOAT7
  • MDGA2-14q21.3
  • MECP2-Xq28
  • MED12
  • MED13
  • MEF2C-5q14.3
  • MT-ATP8
  • MT-CO1
  • MT-CO2
  • MT-CO3
  • MT-CYB
  • MT-ND1
  • MT-ND2
  • MT-ND3
  • MT-ND4
  • MT-ND4L
  • MT-ND5
  • MT-ND6
  • MT-RNR1
  • MT-RNR2
  • MT-TA
  • MT-TC
  • MT-TD
  • MT-TE
  • MT-TF
  • MT-TG
  • MT-TH
  • MT-TI
  • MT-TK
  • MT-TL1
  • MT-TL2
  • MT-TM
  • MT-TN
  • MT-TP
  • MT-TQ
  • MT-RT
  • MT-TS1
  • MT-TS2
  • MT-TT
  • MT-TV
  • MT-TW
  • MT-TY
  • NBEA
  • NFIB
  • NLGN1-3q26.31
  • NLGN3-Xq13.1
  • NLGN4X- Xp22.32-22.31
  • NOS1AP-1q23.3
  • NRXN1-2p16.3
  • NRXN2-11q13.1
  • NSD1
  • OPHN1
  • PAK3
  • PCDH10-4q28.3
  • PCDH19-Xq22.1
  • PCDH9-13q21.32
  • PDZD4-Xq22.1
  • PHIP
  • POGZ
  • PPP1R3F-Xp11.23
  • PTCHD1-Xp22.11
  • PTEM
  • PTEN-10q23.31
  • RAB39B-Xq28
  • RAI1
  • RIMS3-1p34.2
  • RORB
  • RPL10-Xq28
  • SETBP1
  • SETD2
  • SETD5
  • SH3KBP1-Xp22.12
  • SHANK2-11q13.3-13.4
  • SHANK3-22q13.33
  • SLC9A9-3q24
  • SYN1-Xp11.3-11.23
  • TANC2
  • TBR1
  • TCF12
  • TCF20
  • TCF7L2
  • TRIP12
  • TSC1
  • TSC2
  • TSPAN7-Xp11.4
  • UBE2A
  • UPF3B
  • VAMP2
  • WASF1
  • WDFY3
  • WNK3-Xp11.22
  • YY1
  • ZDHHC9
  • ZMIZ1
  • ZNF292
  • ZSWIM6
  • 16p11.2 Deletion
  • 15q11.2-Prader-Will Syndrome, Angelman Syndrome

Sources: Blueprint Genetics, Ambry Genetics, NCBI, Evicore

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