All individuals with variants in gene MED13L

36 entries on 1 page. Showing entries 1 - 36.
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00019865 - PubMed: Cafiero 2015, Journal: Cafiero 2015 - F no Italy white >08y - - - ID brachycephaly, no high forehead, no bitemporal narrowing, horizontal eyebrows, weak upslanting of palpebral fissures, weak synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, no cupid-bow upper lip, thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; severe speech impairment; hypotonia; ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly; cleft palate; club foot; ALL; hearing loss 1 1 Giuseppe Marangi
00019867 - PubMed: Cafiero 2015, Journal: Cafiero 2015 - F no Italy white >03y - - - CHD, ID brachycephaly, high forehead, bitemporal narrowing, horizontal eyebrows, upslanting of palpebral fissures, synophrys, epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; developmental delay; motor delay; no motor delay; no severe speech impairment; no hypotonia; no ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly, Open foramen ovale 1 1 Giuseppe Marangi
00019868 - PubMed: Cafiero 2015, Journal: Cafiero 2015 - F no United States African american, mexican, philippino >12y - - - ID no brachycephaly, high forehead, no bitemporal narrowing, no horizontal eyebrows, upslanting of palpebral fissures, synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; no motor delay; no hypotonia; mild ataxia/motor incoordination; choreiform movements; seizures; brain anomalies; no brain anomalies; macrocephaly; central obesity; cubitus valgus 1 1 Giuseppe Marangi
00019870 - PubMed: Gilissen 2014 - ? ? - - - - - - ID feeding problems, epilepsy, IQ 50, small dysplastic low-set ears, a bulbous nasal tip a large mouth and a simean crease of his right hand 1 1 Marianne Vos (LOVD-team)
00050408 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? duane anomaly, delayed speech and language development, global developmental delay, hypoplastic toenails, abnormal facial shape, autism 1 1 Johan den Dunnen
00050494 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? generalized neonatal hypotonia, abnormality of calvarial morphology, strabismus, delayed gross motor development, upslanted palpebral fissure, epicanthus, diffuse cerebral atrophy, increased body weight, bilateral conductive hearing impairment, bilateral sensorineural hearing impairment, inverted nipples, intellectual disability 1 1 Johan den Dunnen
00050512 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - ? abnormality of the tongue, global developmental delay, delayed speech and language development, narrow forehead, hypertelorism, flat forehead, aggressive behavior, difficulty running 1 1 Johan den Dunnen
00050541 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, microcephaly, glabellar hemangioma, preauricular skin tag, hypoplastic nostrils, micrognathia, growth delay, inguinal hernia, agenesis of corpus callosum 1 1 Johan den Dunnen
00050622 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? global developmental delay, talipes, inguinal hernia, abnormal facial shape, cryptorchidism, abnormality of toe, cortical dysplasia 1 1 Johan den Dunnen
00050637 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? microcephaly, low posterior hairline, high anterior hairline, downslanted palpebral fissures, bilateral ptosis, convex nasal ridge, abnormality of the mouth, bifid uvula, abnormality of earlobe, distal arthrogryposis, inverted nipples, abnormality of the hallux 1 1 Johan den Dunnen
00102096 P26 - - M no China - >02y - - - ID HP:0001510; HP:0100867; HP:0001734; HP:0001680; HP:0001643; HP:0001633; HP:0001631; global developmental delay (HP:0001263) 1 1 Wenjuan Qiu
00111396 S_039 PubMed: Popp 2017, Journal: Popp 2017 - M no - - - - - - DTGA1 Moderate ID, attention difficulties, strabismus, hypotonia, cryptorchidism 1 1 Bernt Popp
00111397 S_068 PubMed: Popp 2017, Journal: Popp 2017 - M - - - - - - - DTGA1 Hypotonia, hyperopia, moderate ID, depression, developmental regression 1 1 Bernt Popp
00163933 - - - M no Poland - 07y - - - ? HP:0010864 intellectual disability, severe; HP:0001263 delayed psychomotor development; HP:0000252 microcephaly; HP:0001344 absent speech; HP:0001276 hypertonia; HP:0008936 axial hypotonia; HP:0002090 pneumonia; HP:0002119 enlarged cerebral ventricles; HP:0001999 facial dysmorphism; HP:0000565 esotropia; HP:0000733 stereotypy; HP:0100716 self-injurious behavior 1 1 Mateusz Dawidziuk
00183671 27620904-Pat16 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00183672 27620904-Pat17 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00276039 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Muscular hypotonia (HP:0001252); Ptosis (HP:0000508); Asymmetric growth (HP:0100555) 1 1 IMGAG
00276040 - - - M - - - - - - - ? Intellectual disability (HP:0001249); Delayed speech and language development (HP:0000750); Facial hypotonia (HP:0000297); Aggressive behavior (HP:0000718) 1 1 IMGAG
00295576 - - - M - - - - - - - ? Delayed social development (HP:0012434); Muscular hypotonia (HP:0001252); Global developmental delay (HP:0001263); Motor delay (HP:0001270); Broad-based gait (HP:0002136); Recurrent upper respiratory tract infections (HP:0002788); Epicanthus (HP:0000286); Hypertelorism (HP:0000316); Astigmatism (HP:0000483); Hypermetropia (HP:0000540); Prolonged neonatal jaundice (HP:0006579); Delayed speech and language development (HP:0000750) 1 1 Andreas Laner
00296765 APN-14 PubMed: Redin 2014 analysis 106 patients; 2-generation family, 1 affected, unaffected heterozygous carrier parents M - France - - - - - ID moderate intellectual disability 1 1 Johan den Dunnen
00302771 820.316 PubMed: Hamdan 2015 - F - Canada - - - - - ID moderate intellectual disability; speech delay; walk-3y; no epilepsy; no autistic features; no microcephaly; no macrocephaly; CT brain increased CSF spaces; no neurological abnormalities; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; overweight 1 1 Johan den Dunnen
00306253 - - - F - - - - - - - ? Delayed speech and language development (HP:0000750); Muscular hypotonia (HP:0001252); Microcephaly (HP:0000252); Duane anomaly (HP:0009921); Bifid uvula (HP:0000193); Astigmatism (HP:0000483); Renal hypoplasia (HP:0000089) 1 1 IMGAG
00313946 Pat1 PubMed: Van Haelst 2015, Journal: Van Haelst 2015 - F - - white - - - - ? high forehead, no horizontal eyebrows, upslanting of palpebral fissures, no synophrys, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, no prognathism, large ears/thickened helices; no open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; developmental delay; motor delay; no hypotonia; no seizures; no brain anomalies; no microcephaly; no macrocephaly; accessory nipples; macroglossia 1 1 Johan den Dunnen
00313947 Pat2 PubMed: Van Haelst 2015, Journal: Van Haelst 2015 - F - - - - - - - ? high forehead, no horizontal eyebrows, no upslanting of palpebral fissures, no synophrys, depressed nasal bridge, no bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, no prognathism; open foramen ovale, no ventricular septal defect, no coarctation of the aorta, no pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; intellectual disability/developmental delay; motor delay; severe speech impairment; no hypotonia; no seizures; no microcephaly; mild macrocephaly 1 1 Johan den Dunnen
00313948 Pat1 PubMed: Asadollahi 2013, Journal: Asadollahi 2013 - F - - - - - - - ? no brachycephaly, high forehead, bitemporal narrowing, no horizontal eyebrows, upslanting of palpebral fissures, no synophrys, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; no open foramen ovale, ventricular septal defect, no coarctation of the aorta, pulmonary atresia, no tetralogy of Tallot, no dextro-looped transposition great arteries, supracardial total anomalous pulmonary venous connection; moderate intellectual disability/developmental delay; motor delay; severe speech impairment; hypotonia; ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly; macroglossia 1 1 Johan den Dunnen
00313949 Pat2 PubMed: Asadollahi 2013, Journal: Asadollahi 2013 - F - - - - - - - ? no brachycephaly, high forehead, bitemporal narrowing, horizontal eyebrows, upslanting of palpebral fissures, no epicanthus, depressed nasal bridge, bulbous nasal tip, round face, cupid-bow upper lip, no thin vermilion border, prognathism, large ears/thickened helices; tetralogy of Tallot, no dextro-looped transposition great arteries, no supracardial total anomalous pulmonary venous connection; developmental delay; motor delay; severe speech impairment; hypotonia; no ataxia/motor incoordination; no choreiform movements; no seizures; no brain anomalies; no microcephaly; no macrocephaly; bowed legs 1 1 Johan den Dunnen
00313950 Pat3 PubMed: Asadollahi 2013, Journal: Asadollahi 2013 - F - - - - - - - ? see paper; ... 1 1 Johan den Dunnen
00315485 - - - ? - - - - - - - ? Self-mutilation (HP:0000742); Hirsutism (HP:0001007); Global developmental delay (HP:0001263); Abnormal facial shape (HP:0001999); Progressive language deterioration (HP:0007064) 1 1 IMGAG
00399284 188556 - - F ? Germany - - - - - MRFACD Intellectual disability, Abnormal chromosome morphology, differential diagnosis initially down-syndrome 1 1 Andreas Laner
00401637 191P - - F no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00424041 208666 - - M no Germany - - - - - MRFACD Epicanthus, Delayed speech and language development, Metatarsus adductus, Motor delay, Gliosis, Axial hypotonia, Broad-based gait, Global developmental delay 1 1 Andreas Laner
00438697 HSJ0725 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00440430 PED3340.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00452930 - - - M - - (not applicable) white - - - - ? HP:0001263, HP:0001601, HP:0040196, HP:0002020, HP:0000286, HP:0000708 1 1 Marketa Wayhelova
00457918 - - - M - - (not applicable) white - - - - NDD HP:0001513, HP:0002342, HP:0000098 1 1 Marketa Wayhelova
00459431 - - - M - - (not applicable) white - - - - ? HP:0000201, HP:0001159, HP:0000047, HP:0000365, HP:0004322, HP:0001249, HP:0000271 1 1 Marketa Wayhelova
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