Mental retardation (MR)

Is a generalized disorder appearing before adulthood, characterized by significantly impaired cognitive functioning and deficits in two or more adaptive behaviors. It has historically been defined as an Intelligence Quotient score under 70. Once focused almost entirely on cognition, the definition now includes both a component relating to mental functioning and one relating to individuals' functional skills in their environment. As a result, a person with a below-average intelligence quotient (BAIQ) may not be considered mentally retarded. Syndromic mental retardation is intellectual deficits associated with other medical and behavioral signs and symptoms. Non-syndromic mental retardation refers to intellectual deficits that appear without other abnormalities.

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OMIM ID NAME PROTEINS TYPE ALIASES ABBREVIATIONS PATHWAY(S) RELATED
610181 Aicardi-Goutieres syndrome type 2 (AGS2) RNASEH2B microcephaly, mental retardation (MR) AGS2 syndrome AGS2 DNA replication
606002 ataxia-oculomotor apraxia 2 (AOA2/SCAR1) SETX neurodegenerative disease, mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem spinocerebellar ataxia autosomal recessive type 1 AOA2
SCAR1
156200 mental retardation autosomal dominant type 1 (MRD1) MBD5 mental retardation (MR) MRD1
210900 Bloom syndrome RECQL3 (BLM) mental retardation (MR), skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, immunodeficiency, sexual immaturity, sensitivity to radiation, telangiectasia Bloom–Torre–Machacek syndrome BLM
BL
BLS
Fanconi anemia (FA) pathway, homologous recombination (HR)
216400 Cockayne syndrome, TYPE A ERCC8 (CSA) neurodegenerative disease, mental retardation (MR), premature aging, skeletal abnormalities, sensitivity to radiation, NO CANCER development, eye or vision problem Weber-Cockayne syndrome
Neill-Dingwall Syndrome
CSA nucleotide excision repair (NER)
214150 cerebro-oculo-facio-skeletal syndrome type 1 (COFS1) ERCC6 (CSB) mental retardation (MR), psychomotor impairment, skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS syndrome 1
Pena-Shokeir syndrome type 2
COFS1 nucleotide excision repair (NER)
606593 LIG4 syndrome LIG4 mental retardation (MR), psychomotor impairment, skeletal abnormalities, risk of malignant disease, skin problem, chromosomal instability, immunodeficiency, sensitivity to radiation, facial anomalies, growth retardation, microcephaly LIG4S
LIG4
non-homologous end-joining (NHEJ)
105830 Angelman syndrome (AS) MECP2 facial anomalies, mental retardation (MR) happy puppet syndrome
ANGELMAN SYNDROME CHROMOSOME REGION, INCLUDED
AS
ANCR
heterochromatin formation
312750 Rett syndrome (RTT) MECP2 microcephaly, mental retardation (MR) AUTISM, DEMENTIA, ATAXIA, AND LOSS OF PURPOSEFUL HAND USE
RETT SYNDROME, ZAPPELLA VARIANT, INCLUDED
RETT SYNDROME, PRESERVED SPEECH VARIANT, INCLUDED
RETT SYNDROME, ATYPICAL, INCLUDED
RTT heterochromatin formation
300055 mental retardation syndromic X-linked type 13 (MRXS13) MECP2 mental retardation (MR) MENTAL RETARDATION, X-LINKED 79
MENTAL RETARDATION, X-LINKED 16
MENTAL RETARDATION, X-LINKED, WITH SPASTICITY
MENTAL RETARDATION WITH PSYCHOSIS, PYRAMIDAL SIGNS, AND MACROORCHIDISM
MRXS13
MRX79
MRX16
PPMX
heterochromatin formation
607426 coenzyme Q10 deficiency (COQ10D) APTX neurodegenerative disease, mental retardation (MR) COQ10D
610329 Aicardi-Goutieres syndrome type 3 (AGS3) RNASEH2C microcephaly, mental retardation (MR) AGS3 syndrome AGS3 DNA replication
612075 mitochondrial DNA depletion syndrome 8B (MNGIE type) RRM2B neurodegenerative disease, eye or vision problem, mental retardation (MR) MTDP8B
MNGIE type
modulation of nucleotide pools
613402 microcephaly seizures and development delay (MCSZ) PNKP (PNK) neurodegenerative disease, microcephaly, mental retardation (MR) EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 10 MCSZ
EIEE10
278800 De Sanctis-Cacchione syndrome (DSC) ERCC6 (CSB) growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS), mental retardation (MR) xerodermic idiocy DSC nucleotide excision repair (NER)
278780 xeroderma pigmentosum, complementation group G (XPG) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), risk of malignant disease, skin problem, sensitivity to radiation, CANCER, skin cancer xeroderma pigmentosum VII XPG
XP7
nucleotide excision repair (NER)
133540 Cockayne syndrome, TYPE B (CSB) ERCC6 (CSB) microcephaly, mental retardation (MR), psychomotor impairment, sensitivity to radiation, NO CANCER development, eye or vision problem, cerebro-oculo-facio-skeletal-syndrome (COFS) CSB syndrome CSB nucleotide excision repair (NER)
210600 Seckel syndrome 1 (SCKL1) ATR microcephaly, mental retardation (MR), facial anomalies, growth retardation BIRD-HEADED DWARFISM
SECKEL-TYPE DWARFISM
NANOCEPHALIC DWARFISM
MICROCEPHALIC PRIMORDIAL DWARFISM I
SCKL1
SCKL
Fanconi anemia (FA) pathway, DNA damage response (DDR)
610333 Aicardi-Goutieres syndrome 4 (AGS4) RNASEH2A psychomotor impairment, microcephaly, mental retardation (MR) AGS4 syndrome AGS4 DNA replication
225750 Aicardi-Goutieres syndrome 1 (AGS1) TREX1 (DNase III) microcephaly, neurodegenerative disease, mental retardation (MR), skin problem, immunodeficiency AGS1 syndrome
AGS syndrome
encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis
cree encephalitis
pseudotoxoplasmosis syndrome
Aicardi-Goutieres syndrome 1, autosomal dominant, included
AGS1
AGS
Fanconi anemia (FA) pathway
611943 RIDDLE syndrome RNF168 mental retardation (MR), psychomotor impairment, sensitivity to radiation, facial anomalies, immunodeficiency RADIOSENSITIVITY, IMMUNODEFICIENCY, DYSMORPHIC FEATURES, AND LEARNING DIFFICULTIES RIDDLE
612938 growth retardation, developmental delay, coarse facies, and early death (GDFD) FTO mental retardation (MR), skeletal abnormalities, sexual immaturity, facial anomalies, growth retardation GDFD syndrome GDFD
610758 cerebro-oculo-facio-skeletal syndrome 4 (COFS4) ERCC1 microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS4 syndrome COFS4 Fanconi anemia (FA) pathway, nucleotide excision repair (NER)
xxx8 cerebro-oculo-facio-skeletal syndrome 3 (COFS3) ERCC5 (XPG) microcephaly, neurodegenerative disease, mental retardation (MR), skeletal abnormalities, eye or vision problem, facial anomalies, growth retardation, cerebro-oculo-facio-skeletal-syndrome (COFS) COFS3 syndrome COFS3 nucleotide excision repair (NER)
194050 Williams-Beuren syndrome (WBS) GTF2I, GTF2IRD1 facial anomalies, mental retardation (MR) transcription factors

Last modification date: July 1, 2011