Panel 15: Mental retardation


Includes:

All associated genes and non-syndromic syndromic mental retardation.

Mental retardation (MR), a term that tends to be replaced by intellectual disability, is’ a significant limitations in intellectual functioning (thinking, learning, problem solving) and adaptive behaviors (practical and social skills) Home before 18 years. “Its prevalence is 3% of the general population and 1% of the school age population. It is higher in males (1.2: 1 in grave RM, 1.6: 1 in mild MR). In the RM of genetic origin we distinguish syndromic and non-syndromic.

We talked about RM when the CI is

• Normal Intelligence: IQ of 85-115 (-1 and +1 ds)
• Limit Intelligence: IQ 84-70 (between -1 and -2 ds)
• Mental Retardation: IQ

NMG15: Mental retardation

Included genes:

ACSL4 NONO ANK3 CDH15
AFF2 NSDHL CC2D1A CHAMP1
AP1S2 OPHN1 CRADD COL4A3BP
ARHGEF6 PAK3 CRBN CTCF
ARX PHF6 EDC3 CTNNB1
ATP6AP2 PHF8 FBXO31 DEAF1
ATRX PQBP1 FMN2 DOCK8
BRWD3 PRPS1 GPT2 DPP6
CASK RAB39B GRIK2 DYNC1H1
CLIC2 RAB40AL HERC2 DYRK1A
CUL4B RLIM HNMT EEF1A2
DDX3X RBMX KIAA1033 EPB41L1
DLG3 RP2 KPTN GATAD2B
FMR1 RPS6KA3 LINS1 GRIN1
FTSJ1 SHROOM4 MAN1B1 GRIN2B
FGD1 SLC16A2 MED23 HBA1
GDI1 SLC9A6 METTL23 KAT6A
GRIA3 SYP MRT4 KIAA0442
HCFC1 TAF1 NDST1 KIF1A
HDAC8 SMS NSUN2 KIRREL3
HSD17B10 SOX3 PGAP1 MBD5
HUWE1 SRPX2 PGAP2 MEF2C
IGBP1 THOC2 PRSS12 MYT1L
MRXS28 TSPAN7 SLC6A17 PACS1
IL1RAPL1 UBE2A ST3GAL3 POGZ
IQSEC2 UPF3B TAF2 PPP2R1A
KDM5C USP9X TECR PPP2R5D
KIAA2022 ZDHHC15 TRAPPC9 PURA
KIF4A ZDHHC9 TTI2 SETBP1
L1CAM ZMYM3 TUSC3 SETD5
MID2 ZNF41 ADNP SMARCA4
MECP2 ZNF711 AHDC1 SMARCB1
MED12 ZNF81 ARID1A SOX11
MRX73 ZNF674 ARID1B SYNGAP1
NLGN4 ADAT3 CACNG2 ZBTB18
ZMYND11

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pdf filePanel 15: Mental retardation