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- Autism spectrum Disorder ASD
- ANKH : ANKH inorganic pyrophosphate transport regulator
- HILS1
- SHANK1
- SHANK2
- SHANK2-AS3
- SHANK3 : SH3 and multiple ankyrin repeat domains 3
- Phelan-McDermid Syndrome
- 22q13 Deletion Syndrome
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