Disease #05533 (MR;ID (mental retardation (MR, intellectual disability (ID))))

Official abbreviation MR;ID
Name mental retardation (MR, intellectual disability (ID))
OMIM ID -
Inheritance -
Individuals reported having this disease 54
Phenotype entries for this disease 51
Associated with 5 genes CAMK2A, CLTC, DLG4, GRIA1, NONO
Associated tissues -
Disease features -
Remarks -
Date created 2018-12-18 09:22:07 +01:00 (CET)
Date last edited N/A


Individuals

54 entries on 1 page. Showing entries 1 - 54.
Legend   How to query  

AscendingIndividual ID     
ID_report     
Reference     
Remarks     
Gender     
Consanguinity     
Country     
Population     
Age at death     
VIP     
Data_av     
Treatment     
Disease     
Phenotype details     
Genes screened
Variants in genes
Variants     
Panel size     
Owner     
00208889 27848077-Pat1 PubMed: Bramswig 2017 - M - Germany - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208890 27848077-Pat2 PubMed: Bramswig 2017 - M - Germany - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208891 27848077-Pat3 PubMed: Bramswig 2017 - M - Netherlands - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208892 27479843-Pat? PubMed: Lelieveld 2016 - F - Morocco - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208893 27848077-Pat5 PubMed: Bramswig 2017 - M - Netherlands - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208894 27848077-Pat6 PubMed: Bramswig 2017 - M - Iran - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208895 27848077-Pat7 PubMed: Bramswig 2017 - F - Sweden - - - - - MR;ID see paper; … TRIP12 TRIP12 4 1 Johan den Dunnen
00208896 27848077-Pat8 PubMed: Bramswig 2017 - F - United States white - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208897 27848077-Pat9 PubMed: O'Roak 2012, PubMed: Bramswig 2017 - M - United States African American - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208898 27848077-Pat10 PubMed: O'Roak 2012, PubMed: Bramswig 2017 - M - United States Hispanic - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208899 27848077-Pat11 PubMed: O'Roak 2012, PubMed: Bramswig 2017 - F - United States white - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208900 28251352-Pat1 PubMed: Zhang 2017 - M - Mexico - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208901 28251352-Pat2 PubMed: Zhang 2017 - M - United States - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208902 28251352-Pat3 PubMed: Zhang 2017 - M - United States - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208903 28251352-Pat4 PubMed: Zhang 2017 - F - United States white - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208904 28251352-Pat5 PubMed: Zhang 2017 - F - United States - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208905 28251352-Pat6 PubMed: Zhang 2017 - M - Saudi Arabia - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208906 28251352-Pat7 PubMed: Zhang 2017 - M - United Arab Emirates - - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208907 28251352-Pat8 PubMed: Zhang 2017 - F - United States white - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208908 28251352-Pat9 PubMed: Zhang 2017 - M - United States white - - - - MR;ID see paper; … TRIP12 TRIP12 1 1 Johan den Dunnen
00208982 P694-case1 Journal: Brösse 2018, P694 - F - Syria - - - - - MR;ID perinatal history unremarkable, transmitted hypotrophic newborn (weight 2,500 g, length 50 cm, head circumference never measured); inconspicuous infant period; global developmental disorder with expressive language development disorder, suspected mental retardation, autistic behavioral traits, axial hypotension; nonspecific dysmorphic stigmata with prominent forehead, broad nasal root, hypertelorism, epicanthus, deep-seated ears TRIP12 TRIP12 1 1 Johan den Dunnen
00208983 P694-case2 contact me for details Journal: Brösse 2018, P694 M no Germany - - - - - MR;ID pPerinatal history unremarkable, mature normotrophic newborn (weight 4,000 g, length 53 cm, head circumference 36 cm); inconspicuous infant period; primary developmental disorder with absence of expressive language, moderate mental disability, discrete muscular hypotension, early childhood autism; nonspecific dysmorphic signs with short nose and anteverted nares, small chin, and infraorbital swelling TRIP12 TRIP12 1 1 Johan den Dunnen
00208984 P694-case3 Journal: Brösse 2018, P694 - F no Germany - - - - - MR;ID perinatal history: unremarkable, mature normotrophic newborn (weight 3,800 g, length 54 cm, head circumference 35 cm); inconspicuous infant period; primary developmental disorder with emphasis on language deficits; hyperkinetic behavioral disorder, mild to moderate mental retardation and incontinence; nonspecific dysmorphic signs with broad nose and low standing columella, flat philtrum, narrow upper lip, prominent upper jaw region, and hypopigmentation on the abdomen; somatic growth in the range P3–10. TRIP12 TRIP12 1 1 Johan den Dunnen
00209017 28771251-Pat29 PubMed: Lionel 2018 - F - Canada - - - - - MR;ID Epilepsy, autism spectrum disorder, intellectual disability, and ketotic hypoglycemiaa CDKL5 CDKL5, ZNF92 3 1 Johan den Dunnen
00209034 28771251-Pat63 PubMed: Lionel 2018 - M - Canada - - - - - MR;ID Epilepsy, intellectual disability, and focal cortical dysplasia STXBP1 STXBP1 1 1 Johan den Dunnen
00209043 21868677-Fam PubMed: Hashimoto 2011 2-generation family, 5 affected (4F, M), unaffected heterozygous carrier parents F yes Algeria - - - - - MR;ID mild to moderate ID, no seizures, normal, normal brain MRI MED23 MED23 1 5 Johan den Dunnen
00209044 21868677-FamPat2 PubMed: Hashimoto 2011 sister F yes Algeria - - - - - MR;ID mild to moderate ID, no seizures, normal EEG, normal brain MRI MED23 MED23 1 1 Johan den Dunnen
00209045 25845469-FamPat1 PubMed: Trehan 2015 2-generation family, affected brothers, unaffected heterozygous carrier parents M no United States - - - - - MR;ID profound ID, spasticity, axial hypotonia, dystonia, seizures screaming spells; EEG unprovoked and photic-provoked epileptiform abnormalities; MRI-brain pontine hypoplasia MED23 MED23 2 2 Johan den Dunnen
00209046 25845469-FamPat2 PubMed: Trehan 2015 brother M no United States - - - - - MR;ID profound ID, spasticity, axial hypotonia, choreoathetosis, seizures screaming spells; EEG disorganized slow background, bilateral frontal epileptiform abnormalities; MRI-brain pontine hypoplasia, thin corpus callosum, temporal lobe hypomyelination MED23 MED23 2 1 Johan den Dunnen
00211173 30526862-FamPKMR215PatIV2 PubMed: de Brouwer 2018 2-generation family, 4 affected (2F, 2M), unaffected heterozygous carrier parents F yes Pakistan - - - - - MR;ID height 140cm (<3.9SD), weight 37kg (-3.6SD), head circumference 50cm (-4.0 SD), moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips (+/-), everted lower lip, hypodontia, no conical shaped teeth PUS7 PUS7 1 4 Johan den Dunnen
00211174 30526862-FamPKMR215PatIV3 PubMed: de Brouwer 2018 brother PatIV3 M yes Pakistan - - - - - MR;ID height 137cm (-3.5SD), weight 29.5kg (-3.2SD), head circumference 49cm (-3.6SD), moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips (+/-), everted lower lip, no hypodontia, no conical shaped teeth PUS7 PUS7 1 1 Johan den Dunnen
00211175 30526862-FamPKMR215PatIV4 PubMed: de Brouwer 2018 brother PatIV4 M yes Pakistan - - - - - MR;ID moderate intellectual disability, no motor delay, speech delay, aggressive behaviour, no seizures PUS7 PUS7 1 1 Johan den Dunnen
00211176 30526862-FamMR046PatIV1 PubMed: de Brouwer 2018 4-generation family, affected brothers, unaffected heterozygous carrier parents M yes Syria - - - - - MR;ID height 104cm (-4.0SD), head circumference 46.5cm (-4.5SD), moderate intellectual disability, motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, no full lips, no everted lower lip, no hypodontia, no conical shaped teeth, hepatomegaly; MRI brain generalized atrophy, enlargement of ventricles PUS7 PUS7 1 2 Johan den Dunnen
00211177 30526862-FamMR046PatIV2 PubMed: de Brouwer 2018 brother PatIV2 M yes Syria - - - - - MR;ID height 80cm (-2.2SD), head circumference 46cm (-2.5SD), moderate intellectual disability, motor delay, speech delay, no seizures, smooth philtrum, no full lips, no everted lower lip, no hypodontia, no conical shaped teeth PUS7 PUS7 1 1 Johan den Dunnen
00211178 30526862-FamR14-22173 PubMed: de Brouwer 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes Netherlands Moroccan - - - - MR;ID height 95.5cm (-2.2SD), weight 11.5kg (-3.0SD), head circumference 46.3cm (-2.5SD), intellectual disability, motor delay, speech delay, aggressive behaviour, no seizures, smooth philtrum, full lips, everted lower lip, hypodontia, conical shaped teeth; MRI brain normal PUS7 PUS7 1 1 Johan den Dunnen
00245761 RM208 - - M no - - - - - - MR;ID - - ASNSD1, CLEC4D, CNST, CTR9, DTL, FAT2, INTS7, LAMB3, OSBPL6, PHKA2, RAPGEF4, TTC22, TTN 16 1 Karine Poirier
00245766 RED - - F - - - - - - - MR;ID - - CNTNAP4, CTR9, LAT2, MUC16, NHP2L1, TTC7A, VCAN 9 1 Karine Poirier
00316191 MR2128_01 - - M no Italy - - - - - MR;ID Global developmental delay; stereotypy; recurrent fever SETBP1 SETBP1 1 1 Emanuela Leonardi
00316194 MR2622_01 - - F no Romania - - - - - MR;ID Language impairment; Mild Intellectual Disability - SETBP1 1 1 Emanuela Leonardi
00316195 MR2627_01 - - M no Ukraine - - - - - MR;ID Psychiatric disorder, Moderate Intellectual Disability - SETBP1 1 1 Emanuela Leonardi
00316196 MR2703_01 - - M no Albania - - - - - MR;ID Language impairment, Severe expressive language delay, poor motor coordination - SETBP1 1 1 Emanuela Leonardi
00316197 MR2633_01 - - M no Italy - - - - - MR;ID Autism, Language impairment, Absent speech - SETBP1 1 1 Emanuela Leonardi
00316198 MR2618_01 - - M no Italy - - - - - MR;ID Autism - SETBP1 1 1 Emanuela Leonardi
00331313 171071 - - M ? Germany - - - - - MR;ID - - - - 1 Andreas Laner
00331314 171071 - - M - Germany - - - - - MR;ID (+) Cryptorchidism,(+) Hypertelorism,(+) High forehead,(+) Downslanted palpebral fissures,(+) Delayed speech and language development,(+) Single transverse palmar crease,(+) Global developmental delay AUTS2, FOXP1 AUTS2, FOXP1 2 1 Andreas Laner
00392919 188350 - - M no Germany - - - - - MR;ID Autism, Absent speech, Delayed speech and language development TSPAN7 TSPAN7 1 1 Andreas Laner
00408976 FamPat5 PubMed: Puffenberger 2012 large family (>5 affected), no patient number in publication, consecutive numbers given ? - United States Amish;Mennonite - - - - MR;ID delayed language development; mild-moderate mental retardation CRADD CRADD 1 5 LOVD
00408977 FamPat6 PubMed: Puffenberger 2012 relative ? - United States Amish;Mennonite - - - - MR;ID delayed language development; mild-moderate mental retardation CRADD CRADD 1 1 LOVD
00408978 FamPat7 PubMed: Puffenberger 2012 relative ? - United States Amish;Mennonite - - - - MR;ID delayed language development; mild-moderate mental retardation CRADD CRADD 1 1 LOVD
00408979 FamPat8 PubMed: Puffenberger 2012 relative ? - United States Amish;Mennonite - - - - MR;ID delayed language development; mild-moderate mental retardation CRADD CRADD 1 1 LOVD
00408980 FamPat9 PubMed: Puffenberger 2012 relative ? - United States Amish;Mennonite - - - - MR;ID delayed language development; mild-moderate mental retardation CRADD CRADD 1 1 LOVD
00448490 286203 - - M no ? (unknown) - - - - - MR;ID Autistic behavior, Absent speech, Abnormal repetitive mannerisms, Reduced eye contact, seizures NBEA NBEA 1 1 Andreas Laner
00466404 342568 - - M no Germany - - - - - MR;ID Delayed speech and language development, Neurodevelopmental delay, Atypical behavior, Preauricular skin tag, Restlessness, Short attention span, Sensory seeking ATP2B1 ATP2B1 1 1 Andreas Laner
00467473 348301 - - M no Germany - - - - - MR;ID Neurodevelopmental delay, Delayed speech and language development, Abnormality of mental function, Reduced attention regulation, Pectus carinatum SOX6 SOX6 1 1 Andreas Laner
Legend   How to query  

Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.
  Powered by LOVD v.3.0 Build 30b
LOVD software ©2004-2024 Leiden University Medical Center
Database contents © by their respective submitters and curators
 There are currently no updates.