All individuals with variants in gene MED12

65 entries on 1 page. Showing entries 1 - 65.
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00000019 - PubMed: Almomani 2011 - - - - - - - - - autism, BMD/DMD, TSC - 2 1 Global Variome, with Curator vacancy
00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 25 1 Yu Sun
00000209 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), prolactin deficiency, age sonographic determination testicular volume 21.36y, testicular volume right/left 30/26 (8.5–18.3ml) 25 1 Yu Sun
00016982 19377147-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016983 19377148-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016984 19377149-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 54 Lucy Raymond
00016985 19377150-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00016986 19377151-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 2 Lucy Raymond
00017005 - - - F - Iran ? - - - - UL - 2 1 Samaneh Sadeghi
00017009 - - - F - Iran ? - - - - UL - 1 1 Samaneh Sadeghi
00017010 - - - F - Iran ? - - - - UL - 1 1 Samaneh Sadeghi
00017011 - - - F - Iran ? - - - - UL - 1 1 Samaneh Sadeghi
00017012 - - - F - Iran ? - - - - UL - 1 1 Samaneh Sadeghi
00017013 - - - F - Iran ? - - - - UL - 1 1 Samaneh Sadeghi
00017017 Fam10 PubMed: Tzschach 2015, (Maiwald in preparation 2-generation family, 2 affected brothers/mother M - - ? - - - - MRX;IDX brothers moderate intellectual disability, short stature, microcephaly; mother learning problems 1 2 Andreas Tzschach
00017025 - - - F - - white - - - - UL - 1 1 Kati Kämpjärvi
00017026 - - - F - - white - - - - UL - 1 1 Kati Kämpjärvi
00017027 - - - F - - white - - - - UL - 1 1 Kati Kämpjärvi
00017028 - - - F - - white - - - - UL - 2 1 Kati Kämpjärvi
00017029 - - - F - South Africa mixed - - - - UL - 2 1 Kati Kämpjärvi
00050667 - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected father/child F - United Kingdom (Great Britain) - - - Decipher - ? talipes, toe clinodactyly, short toe, abnormality of limb bone morphology, global developmental delay, microcephaly, sparse scalp hair, abnormality of the anterior fontanelle, sparse eyebrow, abnormality of the eyelid, downslanted palpebral fissures, long philtrum, downturned corners of mouth, low-set ears, submucous cleft hard palate, short thumb, short distal phalanx of toe, postaxial polydactyly (hands), cutaneous finger syndactyly, telecanthus, anteriorly placed anus, patent ductus arteriosus, mesomelic/rhizomelic limb shortening, coarctation of aorta 1 2 Johan den Dunnen
00050684 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - ? abnormality of tear glands or tear production, diaphoresis, hyperhidrosis, constipation, abnormality of taste sensation, impaired pain sensation, painless fractures due to injury, urticaria, muscle weakness 1 1 Johan den Dunnen
00080852 - PubMed: Trujillano 2017 unaffected heterozygous carrier mother - - - - - - - - OKS Opitz-Kaveggia syndrome (OMIM:305450) 1 1 Daniel Trujillano
00102111 P16 - - M no China - >05y06m - - - ID HP:0001290; HP:0000717; HP:0100024; HP:0000752; intellectual disability (HP:0001249) 1 1 Wenjuan Qiu
00111410 S_067 PubMed: Popp 2017, Journal: Popp 2017 - F no - - - - - - ID Female, severe ID, behavioral anomalies; severe intellectual disability (HP:0010864); severe global developmental delay (HP:0011344) 1 1 Bernt Popp
00163913 - - - M - (Germany) - - - - - ? Macrocephaly (HP:0000256); Global developmental delay (HP:0001263); Delayed speech and language development (HP:0000750) 1 1 IMGAG
00180164 29286531-Pat16 PubMed: Tumienė 2018 - - - (Slovenia) - - - - - ? Epilepsy (HP:0001250), generalized tonic-clonic seizures (HP:0025190), global developmental delay (HP:0001263), facial dysmorphism (HP:0001999), microcephaly (HP:0000252). Head MRI: ventriculomegaly (HP:0002119). 1 1 Johan den Dunnen
00183109 25644381-FamT17 PubMed: Hu 2016 family, 5 affected, 4 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 5 Johan den Dunnen
00183110 25644381-FamP158 PubMed: Hu 2016 family, 2 affected, 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX - 1 2 Johan den Dunnen
00183111 FamD145/Fam4 PubMed: Hu 2016, PubMed: Charzewska 2018 3-generation family, 2 affected (2M), 2 unaffected heterozygous carrier females M - - - - - - - MRX;IDX intellectual disability, developmental delay, tall thin body habitus, hypotonia, seizures and EEG abnormalities, corpus callosum agenesis, long narrow face, prominent forehead, prominent nasal bridge, anteverted nares, small ears, high arched palate, dental abnormalities, hypertelorism, upslanted palberal sparse eyebrows, strabismus, skeletal anomaly, single palmar crease, cardiac anomaly, cryptorchidism, inguinal hernia 1 2 Johan den Dunnen
00183656 27620904-Pat01 PubMed: Martinez 2017, Journal: Martinez 2017 - - - Spain - - - - - ID - 1 1 Johan den Dunnen
00230642 FamPatII3/III4/III6 PubMed: Rubinato 2019 3-generation family, 3 affected (3M), 3 unaffected carrier females F no France - - - - - ? mild to severe ID, important speech delay, behavior problems, dysmorphic facial features, hearing loss; carrier females have facial dysmorphism (high forehead, hypertelorism, down-slanting palpebral fissures) 1 3 Laurence Jonard
00266257 Fam3 PubMed: Charzewska 2018 2-generation family, 4 affected brothers (4M), unaffected heterozygous carrier mother M no - - - - - - MRX;IDX intellectual disability, developmental delay, poor/absent speech, hypotonia, macrocephaly, long narrow face, prominent forehead, bulbous nasal tip, prognathism, strabismus, hyperactive/friendly/affable 1 4 Johan den Dunnen
00266258 Fam../Fam2 PubMed: Tzschach 2015, PubMed: Charzewska 2018 2-generation family, 3 affected brothers (3M), unaffected heterozygous carrier mother M no - - - - - - MRX;IDX intellectual disability, developmental delay, speech dealy/speech disturbances, short stature, mega cisterna magna, microcephaly,brachycephaly, long narrow face, prominent nasal bridge, large ears, cleft lip/cleft palate, dental abnormalities, micrognathia, facial ticks and grimacing, hyperextensible joints, cryptorchidism, urinary incontinence, hyperactive/friendly/affable, hyperactive/aggresive/shy 1 3 Johan den Dunnen
00266259 Fam1 PubMed: Charzewska 2018 3-generation family, 3 affected nephews (3M), 3 unaffected heterozygous carrier mothers - - - - - - - - MRX;IDX intellectual disability, developmental delay, speech dealy/speech disturbances, hyper nasal speech, short stature, spasticity with joint contractures, macrocephaly, malar flattening, thick alae nasi, small ears, narrow lips, high arched palate, dental abnormalities, prognathism, hypertelorism, deep set eyes, wide neck, long hands, feeding problems, constipation, inguinal hernia, hyperactive/aggresive/shy, psychosis 1 3 Johan den Dunnen
00266260 Fam5 PubMed: Charzewska 2018 3-generation family, 2 affected sisters (2F), unaffected heterozygous carrier mother F no - - - - - - MRX;IDX intellectual disability, developmental delay, speech dealy/speech disturbances, macrocephaly, prominent forehead, prominent nasal bridge, short philtrum, small nares, bulbous nasal tip, small ears, narrow lips, prognathism, hypertelorism, epicentral folds, deep set eyes, strabismus 1 2 Johan den Dunnen
00266261 Fam6 PubMed: Charzewska 2018 3-generation family, 1 affected (M), unaffected heterozygous carrier mother M no - - - - - - ID intellectual disability, developmental delay, poor/absent speech, speech dealy/speech disturbances, hyper nasal speech, short stature, hypotonia, seizures and EEG abnormalities, corpus callosum agenesis, macrocephaly, brachycephaly, long narrow face, coarse face, prominent forehead, anteverted nares, bulbous nasal tip, small ears, open mouth, dental abnormalities, prognathism, hypertelorism, ptosis, epicentral folds, downslanted palberal fissures, sparse eyebrows, hearing loss, camptodactyly, single palmar crease, cardiac anomaly, Hirschsprung disease, constipation, anal anomaly, cryptorchidism, genital hypoplasia, hyperactive/friendly/affable 1 1 Johan den Dunnen
00266262 FamK8610 PubMed: Risheg 2007 4-generation family, 2 affected (M), 2 unaffected heterozygous carrier females M - - - - - - - OKS see paper; … 1 2 Johan den Dunnen
00266263 FamK8675 PubMed: Risheg 2007 2-generation family, 2 affected (M), 2 unaffected heterozygous carrier females M - - - - - - - OKS see paper; … 1 2 Johan den Dunnen
00266264 FamK9073 PubMed: Risheg 2007 3-generation family, 4 affected (M), 2 unaffected heterozygous carrier females M - - - - - - - OKS see paper; … 1 4 Johan den Dunnen
00266265 FamK9346 PubMed: Risheg 2007, PubMed: Opitz and Kaveggia 1974 4-generation family, 6 affected (M), 4 unaffected heterozygous carrier females M - - - - - - - OKS see paper; …, mental retardation, macrocephaly, imperforate anus, hypotonia 1 6 Johan den Dunnen
00266266 FamK9049 PubMed: Risheg 2007 2-generation family, 1 affected (M), unaffected heterozygous carrier mother M - - - - - - - OKS see paper; … 1 1 Johan den Dunnen
00266267 FamK9055 PubMed: Risheg 2007 2-generation family, 1 affected (M), unaffected heterozygous carrier mother M - - - - - - - OKS see paper; … 1 1 Johan den Dunnen
00266268 Pat1 PubMed: Graham 2008 - M - - - - - - - OKS see paper; … 1 1 Johan den Dunnen
00266269 Pat2 PubMed: Graham 2008 - M - - - - - - - OKS see paper; … 1 1 Johan den Dunnen
00295089 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295090 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 3 Mohammed Faruq
00302951 Pat7 PubMed: Fieremans 2016 - F - - - - - - - ID see paper; ..., severe intellectual disability, autism spectrum disorder 1 1 Johan den Dunnen
00303554 family PubMed: Bouazzi 2015 2-generation family, 3 affected brothers, heterozygous unaffected mother M - France - - - - - ID see paper; ..., severe nonsyndromic intellectual deficiency, mild dysmorphic features 1 3 Johan den Dunnen
00307257 Patient 62 PubMed: Mendonca 2021 - M - Brazil - - - - - RB1 Unilateral 2 1 Vanessa Mendonça
00307807 UK10K_FINDWGA5411442 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00307808 UK10K_FINDWGA5411178 PubMed: Grozeva 2015, Journal: Grozeva 2015 - M - - - - - - - ID - 1 1 Johan den Dunnen
00363488 - - - F - France - - - - - ID - 1 1 Svetlana Gorokhova
00363489 - - - F - France - - - - - ID Syndactyly (HP:0001159), Intellectual disability (HP:0001249), Impaired social interactions (HP:0000735), Anteriorly placed anus (HP:0001545), Chronic constipation (HP:0012450), Stellate iris (HP:0012775), Talipes equinovarus (HP:0001762) 1 1 Svetlana Gorokhova
00363490 - - - F - France - - - - - ID Toe syndactyly (HP:0001770), Finger syndactyly (HP:0006101), Conductive hearing impairment (HP:0000405), Tetralogy of Fallot (HP:0001636), Intellectual disability, severe (HP:0010864), Single umbilical artery (HP:0001195), Absent speech (HP:0001344), Pretragal ectopia (HP:0030024), Joint contracture of the 5th finger (HP:0009183) 1 1 Svetlana Gorokhova
00363491 - - - F - France - - - - - ID Intellectual disability, moderate (HP:0002342), Delayed speech and language development (HP:0000750), 4-5 toe syndactyly (HP:0004692), Conductive hearing impairment (HP:0000405), Distributed along Blaschko lines (HP:0025293), Strabismus (HP:0000486), Hypermetropia (HP:0000540), Astigmatism (HP:0000483) 1 1 Svetlana Gorokhova
00391877 136P - - M no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00408796 195228 - - F ? - - - - - - HDKR Cleft palate, Renal cyst, Elevated hepatic transaminase, External ear malformation, Failure to thrive, Vaginal atresia, Urethrovaginal fistula, Hydronephrosis, Umbilical hernia 1 1 Andreas Laner
00412372 Fam16 PubMed: Halvardson 2016 - F - Sweden - - - - - NDD autism, developmental dealy, generalized epilepsy, hyperactive, albinism, valgus feet deformity 1 1 Johan den Dunnen
00419469 8009 PubMed: Marinakis 2021 - M - Greece - - - - - ? - 1 1 Jan Traeger-Synodinos
00436391 269032 - - F no Germany - - - - - MRXSLF Neurodevelopmental delay, Absent speech, Hydrocephalus, Enlarged cisterna magna, Cerebellar atrophy, Patent foramen ovale, Patent ductus arteriosus, Hearing impairment, Intellectual disability, Autistic behavior, Strabismus, Dandy-Walker malformation 1 1 Andreas Laner
00440461 PED2895.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00445383 280336 - - M no Ukraine - - - - - OKS Neurodevelopmental delay, Abnormal facial shape, Wide anterior fontanel, Microcephaly, Failure to thrive, Micropenis 1 1 Andreas Laner
00451670 - - - M - - (not applicable) white - - - - ID HP:0000717, HP:0001249, HP:0001344, HP:0007018, HP:0006919 1 1 Marketa Wayhelova
00455216 - - - F - - (not applicable) white - - - - ? HP:0001249, HP:0000525, HP:0001089, HP:0001252, HP:0007477 1 1 Marketa Wayhelova
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