IllnessIntellectual deficit, autosomal recessive, non-syndromal; differential diagnosis

NGS +

Autosomal recessive mental retardation (ARMR) is genetically even more heterogeneous than the other monogenic forms of intellectual deficits (with the exception of AR-inherited metabolic disorders). The prevalence of ARMR in cohorts of affected children in a large population (excluding high rates of kin marriages) is approximately 10%. The risk for ARMR in children of first cousins or closer relatives is at least an order of magnitude higher than in children of unrelated parents. No prevalent genes or metabolic pathways are known for ARMR, the functions of the affected proteins are not limited to neurological/psychiatric aspects, and they are pleiotropic. Of presumably up to 3000 ARMR genes, fewer than 750 have been confirmed, and fewer than 500 additional candidate genes have been identified to date. In summary, the number of ARMR genes to be investigated is very large, with diagnostic yields currently not exceeding 10-20%, largely dependent on the quality of clinical pre-characterization). Targeted ARMR analysis strategies often yield negative DNA test results, which are by no means an exclusion of ARMR.

Reference: doi: 10.1007/s11825-018-0209-z

• Alias: Intellectual deficit, non syndromic, AR
• Alias: Mental retardation, non syndromic, AR
• Allelic: Asthma, susceptibility to (HNMT)
• Allelic: Autism spectrum disorder, [MONDO:0005258, panelapp] (KDM5A)
• Allelic:Intellectual developmental disorder, AD 69 (LMAN2L)
• Cortical dysplasia, complex, with other brain malformations 10 (APC2)
• Developmental and epileptic encephalopathy 18 (SZT2)
• Global developmental delay with/-out impaired intellectual development (CUX1)
• Glycosylphosphatidylinositol biosynthesis defect 16 (PIGC)
• Intellectual developmental disorder + retinitis pigmentosa (SCAPER)
• Intellectual developmental disorder with autism + speech delay (TBR1)
• Intellectual developmental disorder, AR 14 (TECR)
• Intellectual developmental disorder, AR 2 (CRBN)
• Intellectual developmental disorder, AR 34, with variant lissencephaly (CRADD)
• Intellectual developmental disorder, AR 37 (ANK3)
• Intellectual developmental disorder, AR 40 (TAF2)
• Intellectual developmental disorder, AR 41 (KPTN)
• Intellectual developmental disorder, AR 43 (WASHC4)
• Intellectual developmental disorder, AR 45 (FBXO31)
• Intellectual developmental disorder, AR 50 (EDC3)
• Intellectual developmental disorder, AR 51 (HNMT)
• Intellectual developmental disorder, AR 52 (LMAN2L)
• Intellectual developmental disorder, AR 54 (TNIK)
• Intellectual developmental disorder, AR 56 (ZC3H14)
• Intellectual developmental disorder, AR 59 (IMPA1)
• Intellectual developmental disorder, AR 60 (TAF13)
• Intellectual developmental disorder, AR 61 (RUSC2)
• Intellectual developmental disorder, AR 64 (LINGO1)
• Intellectual developmental disorder, AR 66 (C12orf4)
• Intellectual developmental disorder, AR 69 (ZBTB11)
• Intellectual developmental disorder, AR 70 (RSRC1)
• Intellectual developmental disorder, AR 71 (ALKBH8)
• Intellectual developmental disorder, AR 73 (NAA20)
• Intellectual developmental disorder, AR 74 (APC2)
• Intellectual disability [MONDO:0001071, panelapp] (CCDC82)
• Intellectual disability [MONDO:0001071, panelapp] (FILIP1)
• Intellectual disability [MONDO:0001071, panelapp] (KDM5A)
• Intellectual disability [MONDO:0001071, panelapp] (PTPA)
• Intellectual disability [MONDO:0001071, panelapp] (RBSN)
• Intellectual disability [MONDO:0001071. panelapp] (FEM1C)
• Intellectual disability [MONDO:0001071] (ERGIC3)
• Intellectual disability [panelapp] (ASTN1)
• Intellectual disability [panelapp] (BRSK2)
• Intellectual disability [panelapp] (CSDE1)
• Mental retardation, AR (FRY)
• Mental retardation, AR 3 (CC2D1A)
• Mental retardation, AR 36 (ADAT3)
• Mental retardation, AR 46 (NDST1)
• Mental retardation, AR 47 (FMN2)
• Mental retardation, AR 5 (NSUN2)
• Mental retardation, AR 53 (PIGG)
• Mental retardation, AR 58 (ELP2)
• Mental retardation, AR 6 (GRIK2)
• Mental retardation, AR 63 (CAMK2A)
• Mental retardation, AR 67 (EIF3F)
• Mental retardation, AR 68 (TRMT1)
• Mental retardation, AR [panelapp] (ARL14EP)
• Mental retardation, AR [panelapp] (ASCC3)
• Mental retardation, AR [panelapp] (EEF1B2)
• Neurodevelopmental disorder [MONDO:0700092, panelapp] (CCDC82)