Disease #04147 (MRT (mental retardation, autosomal recessive (MRT, intellectual disability (IDT))))

Official abbreviation MRT
Name mental retardation, autosomal recessive (MRT, intellectual disability (IDT))
OMIM ID -
Inheritance -
Individuals reported having this disease 23
Phenotype entries for this disease 23
Associated with 5 genes ELP2, LINGO1, MBOAT7, METTL5, PGAP1
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

23 entries on 1 page. Showing entries 1 - 23.
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00022415 25385316-FamPatII2 PubMed: Vanlander 2015, Journal: Vanlander 2015 - M yes Morocco African >26y 0 - - MRT mild intellectual disability and epilepsy; no signs of myopathy NARS2 NARS2 1 1 Arnaud Vanlander
00024129 - - - - yes Syria Arabic speaking - 0 - - MRT Severe, non-specific, autosomal recessive intellectual disability - EZR 1 1 Rami Abou Jamra
00029662 - PubMed: Carrie 1999 - M - - - - 0 - - AHC, MRT - IL1RAPL1, NR0B1 IL1RAPL1, NR0B1 2 1 Johan den Dunnen
00029692 - PubMed: Figueiredo 2015, Journal: Figueiredo 2015 5-generation family, 7 affecteds (5F, 2M), 6 unaffected carriers - yes Brazil - - 0 - - MRT see paper; ID moderate (2x)/severe (5x), all illiterate, never attended regular school; facial dysmorphism tall forehead, prognatism, prominent chin, very large/ overhanging nose MED25 MED25 1 6 Johan den Dunnen
00029766 - - - - yes Pakistan - - 0 - - MRT - AIMP1 AIMP1 1 5 Zafar Iqbal
00029767 - - - - yes Iran Irani - 0 - - MRT - AIMP1 AIMP1 1 2 Zafar Iqbal
00080181 - PubMed: Soldovieri 2014, Journal: Soldovieri 2014 - M yes Morocco - - 0 - - MRT Neonatal hypotonia, psychomotor delay, intellectual deficiency GRIN1 GRIN1 1 1 Gaetan Lesca
00081422 - - - M no - (not applicable) North Africa - 0 - - MRT delayed motor milestones, speech delay, hypotonia, lability of attention, intellectual disability, dysmorphic features KCNC1 KCNC1 1 1 Thierry Bienvenu
00092293 Fam2PatV7 PubMed: Musante 2017, Journal: Musante 2017 6-generation family, 3 affected (2F, M), unaffected heterozygous carrier parents/relatives F yes Iran Iran (Semnan province) - 0 - - MRT birth 38w; weight normal for age and height, height 150cm (-2SD), OFC 52cm (-2SD); long philtrum; delyed psychomotor development; ataxia; muscle weakness; no seizure; aggressive behavior, temper tantrums; speech impairment; moderate intellectual disability (IQ 46); athetosis WARS2 WARS2 2 3 Luciana Musante
00102728 24534542-Pat2 PubMed: Marques 2014 - M - Portugal - - 0 - - epilepsy, MRT Macrocephaly (1y); refractory epilepsy with progressive cognitive regression (6y); bilateral strabismus; with normal strength and without muscle complaints (able to run, climb stairs and run) at 21y; brain MRI: white matter changes and occypital agyria. LAMA2 LAMA2 2 1 Jorge Oliveira
00103074 BH5665_1/_4 PubMed: Eldomery 2017 2 affected brothers M ? ? (unknown) - - 0 - - MRT hypertrophic cardiomyopathy, developmental delay NAA10 NAA10 1 2 Bernt Popp
00163936 PatDDD4K.01570 PubMed: DDDS 2017 - M - United Kingdom (Great Britain) - - 0 - - MRT intellectual disability; broad forehead, hypertelorism, thick lower lip vermilion; generalized hypotonia, generalized joint laxity, strabismus SET SET 1 1 Johan den Dunnen
00207586 Patient PubMed: Coutton et al., 2013 Clinical and molecular characterization of a patient with de novo 1p36.11 microduplication including PIGV and ARID1A in a girl with intellectual disability and hexadactyly F no - - - 0 - - MRT Four‐limb postaxial hexadactyly. Facial dysmorphic features (broad nasal bridge and tip, short philtrum, thin upper lip, abnormal ears, spare scalp hairs), severe microcephaly of prenatal onset and overlapping toes. She also suffered of constipation, gastro‐oesophageal reflux, feeding problems and eczema in relation to a cow's milk protein allergy. Motor skills delay, severe developmental and speech delay. Serum ALP level was normal. PIGV PIGV 1 1 Philippe Campeau
00218378 961780 - - M no Netherlands european 08y05m 0 - - MRT hypotonia developmental delay - DOCK3 2 1 Ingrid van de Laar
00218928 28195318-FamPat11/12 PubMed: Helbig 2017 2-generation family, affected sister/brother, unaffected heterozygous carrier parents/relatives F;M no United States Jewish-Ashkenazi;Yemen - 0 - - MRT see paper; ... DOCK3 DOCK3, DUOX2, F11, FOXI1, GBA, GHRHR, NOTCH3, PHYHIP 9 1 Johan den Dunnen
00218929 29130632-FamPat PubMed: Iwata-Otsubo 2018 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes United States - - 0 - - MRT see paper; neurodevelopmental disorder, impaired intellectual development, hypotonia, ataxia, ... DOCK3 DOCK3 1 1 Johan den Dunnen
00260869 FamF162 PubMed: Ansar 2018 4-generation family, 2 affected (F, M), unaffected heterozygous carrier parents/relatives F;M - Pakistan - - 0 - - MRT see paper; ..., microcephaly, severe intellectual disability, slurred speech, delayed motor milestones, uncontrolled epilepsy (1/2), no muscular abnormality, aggressive LINGO1 LINGO1, MYO1E 2 2 Johan den Dunnen
00260870 FamPKMR65 PubMed: Ansar 2018 6-generation family, 3 affected (3F), unaffected heterozygous carrier parents/relatives F yes (Netherlands) - - 0 - - MRT see paper; ..., microcephaly (2/3), severe (2/3)/moderate (1/3) intellectual disability, absentd speech, delayed motor milestones, no epilepsy, spastic hypertonia (2/3), aggressive LINGO1 LINGO1 1 3 Johan den Dunnen
00267238 - - - M yes Turkey Kurdish - 0 - - MRT - PGAP1 PGAP1 1 2 Isabel Filges
00267239 - - - F yes Turkey Kurdish - 0 - - MRT - - PGAP1 1 1 Isabel Filges
00274323 G6233 - - M yes Iran - 18y 0 - - MRT intellectual disability, developmental delay,muscular hypotonia MBOAT7 MBOAT7 1 2 Erfan Heidari
00274324 - - - M yes - - - 0 - - MRT - MBOAT7 MBOAT7 1 1 Erfan Heidari
00328822 Fam2PatV8 PubMed: Musante 2017, Journal: Musante 2017 sister F yes Iran Iran (Semnan province) - 0 - - MRT birth 37w; weight normal for age and height, height 151cm (-2SD), OFC 54cm (0SD); long philtrum; delyed psychomotor development; ataxia; muscle weakness; no seizure; aggressive behavior, temper tantrums; speech impairment; moderate intellectual disability (IQ 41); athetosis WARS2 WARS2 2 1 Luciana Musante
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