Phenotypes for disease #04147 (MRT (mental retardation, autosomal recessive (MRT, intellectual disability (IDT))))

24 entries on 1 page. Showing entries 1 - 24.
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AscendingPhenotype ID     
Phenotype details     
Diagnosis/Initial     
Diagnosis/Definite     
Inheritance     
Age/Examination     
Age/Diagnosis     
Age/Onset     
Phenotype/Onset     
Protein     
Owner     
Individual ID     
0000020186 mild intellectual disability and epilepsy; no signs of myopathy - - Familial, autosomal recessive >26y - - - - Arnaud Vanlander 00022415
0000020227 Severe, non-specific, autosomal recessive intellectual disability - - Familial, autosomal recessive 05y - - - - Rami Abou Jamra 00024129
0000025679 - - - Familial, X-linked recessive - - - - - Johan den Dunnen 00029662
0000025703 see paper; ID moderate (2x)/severe (5x), all illiterate, never attended regular school; facial dysmorphism tall forehead, prognatism, prominent chin, very large/ overhanging nose - - Familial, autosomal recessive - - - - - Johan den Dunnen 00029692
0000025733 - - - Familial, autosomal recessive - - - - - Zafar Iqbal 00029766
0000025734 - - - Familial, autosomal recessive - - - - - Zafar Iqbal 00029767
0000060985 delayed motor milestones, speech delay, hypotonia, lability of attention, intellectual disability, dysmorphic features - - Familial, autosomal dominant 10y 06y 00y11m - - Thierry Bienvenu 00081422
0000061154 Neonatal hypotonia, psychomotor delay, intellectual deficiency - - Familial, autosomal recessive 05y05m 05y05m 00y01m Intellectual deficiency - Gaetan Lesca 00080181
0000070638 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 intellectual disability - Familial, autosomal recessive 17y - - - - Luciana Musante 00092293
0000081660 hypertrophic cardiomyopathy, developmental delay - - Familial, X-linked recessive - - - - - Johan den Dunnen 00103074
0000084330 Developmental delay/Intellectual disability, Speech/language delay Motor delay, Hypotonia, Microcephaly - - Isolated (sporadic) 02y01m - - - - Bernt Popp 00106517
0000087476 Severe ID, behavioral anomalies, scoliosis, hernia, strabismus, short stature, microcephaly - - Isolated (sporadic) - - - - - Bernt Popp 00111391
0000129049 intellectual disability; broad forehead, hypertelorism, thick lower lip vermilion; generalized hypotonia, generalized joint laxity, strabismus - - Isolated (sporadic) - - - - - Johan den Dunnen 00163936
0000155397 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. - - Unknown - - - - - Philippe Campeau 00207586
0000166818 hypotonia developmental delay developmental delay autosomal recessive mental retardation Familial, autosomal recessive 08y05m - <01y - - Ingrid van de Laar 00218378
0000167469 see paper; ... - NEDIDHA Familial, autosomal recessive - - - - - Johan den Dunnen 00218928
0000167470 see paper; neurodevelopmental disorder, impaired intellectual development, hypotonia, ataxia, ... - NEDIDHA Familial, autosomal recessive 00y24m - - - - Johan den Dunnen 00218929
0000199403 see paper; ..., microcephaly, severe intellectual disability, slurred speech, delayed motor milestones, uncontrolled epilepsy (1/2), no muscular abnormality, aggressive intellectual disability MRT-64 Familial, autosomal recessive - - - - - Johan den Dunnen 00260869
0000199404 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 intellectual disability MRT-64 Familial, autosomal recessive - - - - - Johan den Dunnen 00260870
0000206955 - intellectual disability MRT42 Familial, autosomal recessive - - - - - Isabel Filges 00267238
0000206956 - intellectual disability MRT42 Familial, autosomal recessive - - - - - Isabel Filges 00267239
0000209297 intellectual disability, developmental delay,muscular hypotonia intellectual disability MRT57 Familial, autosomal recessive - - - - - Erfan Heidari 00274323
0000247029 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 - - Familial, autosomal recessive 16y - - - - Luciana Musante 00328822
0000348060 see paper; ..., intellectual disability, autistic features intellectual disability MRT13 Familial, autosomal recessive 11y - - - - Eyyup Uctepe 00414555
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