All individuals with variants in gene MEIS2

30 entries on 1 page. Showing entries 1 - 30.
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00152012 Pat1 PubMed: Verheije 2019, Journal: Verheije 2019 - M no Morocco - 05y - - - CPCMR cleft palate (HP:0000175); prominent metopic ridge (HP:HP:0005487); downslanting palpebral fissures (HP:0000494); eversion of lower eyelids (HP:0007655); arched eyebrows (HP:0002553); hypoplastic alae nasi (HP:0000430); intellectual disability, mild (HP:0001256); perimembranous ventricular septal defect (HP:0011682); microcephaly (HP:0000252) 1 1 Jeroen Breckpot
00152013 Pat2 PubMed: Verheije 2019, Journal: Verheije 2019 - M no Ireland - 10y11m - - - CPCMR unilateral ptosis (HP:0007687); dysplastic ears (HP:0000377); intellectual disability, mild to moderate (HP:0001256); cleft palate (HP:0000175); autism (HP:0000717) 1 1 Jeroen Breckpot
00152014 Pat3 PubMed: Verheije 2019, Journal: Verheije 2019 - M no - - 04y - - - CPCMR submucous cleft palate (HP:0011819); prominent metopic ridge (HP:0005487); protruding ears (HP:0000411); epicanthic folds (HP:0000286); hypoplastic alae nasi (HP:0000430); prominent ears (HP:0000411); frontal upsweep of hair (HP:0002236); intellectual disability, moderate (HP:0002342) 1 1 Jeroen Breckpot
00152015 Pat4 PubMed: Verheije 2019, Journal: Verheije 2019 - F no - - 20y - - - CPCMR cleft palate (HP:0000175); mitral regurgitation (HP:0001653); broad forehead (HP:0000337); bitemporal narrowing (HP:0000341) 1 1 Jeroen Breckpot
00152123 Pat5 PubMed: Verheije 2019, Journal: Verheije 2019 - M no - - 13y - - - CPCMR bifid uvula (HP:0000193); broad forehead (HP:0000337); medial flaring of eyebrows (HP:0010747); hypertelorism (HP:0000316); distichiasis (HP:0009743); thin upper lip (HP:0000219); beaked nose (HP:0003683); retrognathia (HP:0000278); intellectual disability, mild (HP:0001256); cryptorchidism (HP:0000028); iris nevus (HP:0011525); precocious puberty (HP:0008185); scoliosis (HP:0002650) 1 1 Jeroen Breckpot
00152124 Pat6 PubMed: Verheije 2019, Journal: Verheije 2019 - F no - - 05y08m - - - CPCMR cleft palate (HP:0000175); high arched eyebrows (HP:0002553); thin eyebrows (HP:0045074); hypoplastic alae nasi (HP:0000430); short stature (HP:0004322); intellectual disability, mild (HP:0001256); hypoplastic corpus callosum (HP:0007370) 1 1 Jeroen Breckpot
00152125 Pat7 PubMed: Verheije 2019, Journal: Verheije 2019 - F no - - 18y03m - - - CPCMR Tetralogy of Fallot (HP:0001636); Ebstein's malformation (HP:0010316); feeding difficulties (HP:0011968); strabismus (HP:0025068); scoliosis (HP:0002650); learning problems (HP:0001328) 1 1 Jeroen Breckpot
00152126 Pat8 PubMed: Verheije 2019, Journal: Verheije 2019 - F no Belgium - 11y - - - CPCMR cleft soft palate (HP:0000185); Ebstein's malformation (HP:0010316); VSD (HP:0011682); type secundum atrial septal defect (HP:0001684); high forehead (HP:0000348); broad forehead (HP:0000337); arched eyebrows (HP:0002553); thin eyebrows (HP:0045074); hypoplastic alae nasi (HP:0000430); short philtrum (HP:0000322); lowset ears (HP:0000369); dysplastic ears (HP:0000377); preauricular pit (HP:0004467); intellectual disability (HP:0001256); feeding difficulties (HP:0011968); oligodontia (HP:0000677); overriding toes (HP:0001845) 1 1 Jeroen Breckpot
00152128 Pat9 PubMed: Verheije 2019, Journal: Verheije 2019 - M no Germany - 01y01m - - - CPCMR ventricular septal defect (HP:0011682); secundum atrial septal defect (HP:0001684); pulmonary vein stenosis (HP:0005304); frontal bossing (HP:0002007); high frontal hairline (HP:0009890); bitemporal narrowing (HP:0000341); short palpebral fissures (HP:0012745); hypertelorism (HP:0000316); full cheeks (HP:0000293); low nasal bridge (HP:0005280); anteverted nares (HP:0000463); small mouth (HP:0000160); microcephaly (HP:0000252); short stature (HP:0004322); intellectual disability, profound (HP:0002187); duodenal stenosis (HP:0100867); feeding difficulties (HP:0011968); hypothyroidism (HP:0000851); inguinal hernia (HP:0000023) 1 1 Jeroen Breckpot
00208559 - - - M no - - - - - - - - 1 1 Alessandra Renieri
00302884 Pat5 PubMed: Srivastava 2018 2-generation family, 1 affected, unaffected non-carrier parents F - United States - - - - - ID see paper; ..., intellectual disability, autism, epilepsy, hypotonia 1 1 Johan den Dunnen
00359545 - PubMed: Santoro 2021 - M no Italy - - - - - CPCMR - 1 2 Giulio Piluso
00377302 patient PubMed: Louw 2015 2-generation family, 1 affected, unaffected non-carrier parents F - Belgium - - - - - ? see paper; ..., intellectual disability; atrial septal defect II, ventricular septal defect, left ventricular outflow tract obstruction, coarctation aorta; soft and hard cleft palate; severe gross motor and verbal delay; autism spectrum disorder 1 1 Johan den Dunnen
00377303 patient PubMed: Fujita 2016 2-generation family, 1 affected, unaffected non-carrier parents F - France - - - - - ? see paper; ..., severe intellectual disability, moderate motor/verbal developmental delay, cleft palate, cardiac septal defect, hypermetropia, severe feeding difficulties with gastro-esophageal reflux, constipation 1 1 Johan den Dunnen
00377305 PatA PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - ? no cleft palate; no congenital heart defect; normal; hypoplasia of glenoid cavity; moderate intellectual disability; walk-27m; autism; dyspraxia 1 1 Johan den Dunnen
00377306 PatB PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - ? cleft palate; no congenital heart defect; mild dysmorphic features; normal limbs; mild intellectual disability; walk-18m 1 1 Johan den Dunnen
00377307 PatC PubMed: Verheije 2019, Journal: Verheije 2019 - F - - - - - - - ? no cleft palate; no congenital heart defect; prominent forehead, flat face, sparse eyebrows, epicanthic folds, hypertelorism, bulbous nasal tip; clinodactyly V; psychomotor delay; walk-15m; autism; hypotonia, joint laxity, sacral dimple, paraumbilical hernia 1 1 Johan den Dunnen
00377308 PatD PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - ? bifid uvula; no congenital heart defect; protruding ears, high anterior hairline, long columella; prominent fingertip pads; intellectual disability; walk-24m; feeding problems, joint laxity, CAL spot, cryptorchidism 1 1 Johan den Dunnen
00377309 PatE PubMed: Verheije 2019, Journal: Verheije 2019 - F - - - - - - - ? no cleft palate; no congenital heart defect; dysmorphic, wide mouth; pes planus, long and narrow feet; intellectual disability; four large CAL spots, hypotonia, MRI broad sulci 1 1 Johan den Dunnen
00377310 PatF PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - ? bifid uvula, high-arched palate; no congenital heart defect; normal; normal limbs; moderate intellectual disability; walk-14m; normal behaviour; large CAL spots, dyspraxia 1 1 Johan den Dunnen
00377311 PatG PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - ? cleft palate; atrial septal defect; normal; normal limbs; moderate intellectual disability; 19m-not walking 1 1 Johan den Dunnen
00377312 PatH PubMed: Verheije 2019, Journal: Verheije 2019 - F - - - - - - - ? no cleft palate; no congenital heart defect; anteverted nares, asymmetric ears with abnormal helix; normal limbs; intellectual disability; walk-30m; normal behaviour; bitemporal depigmentation area, migraine-like headaches 1 1 Johan den Dunnen
00377313 PatI PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - ? cleft palate; no congenital heart defect; high forehead, hypertelorism, eyes slant down, broad philtrum, hypoplastic alae nasi, absent alarfacial groove, mild retrognathia; normal limbs; motor delay, learning problems; walk-3y; ADD, anxiety; hypotonia, hyperlaxity 1 1 Johan den Dunnen
00377314 PatJ PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - ? bifid uvula; convex nasal bridge, large prominent nose with beaked tip, short upturned philtrum, high palate, prominent upper gums and central incisors; arachnodactyly; severe intellectual disability; walk-4y; severe myopia, joint laxity 1 1 Johan den Dunnen
00377315 PatK PubMed: Verheije 2019, Journal: Verheije 2019 - F - - - - - - - ? cleft palate; atrial and ventricular septal defect; bitemporal narrowing, hypertelorism, short alae nasi, large central incisors, narrow palate with cleft; long fingers; moderate intellectual disability; walk-20m; anxiety; astigmatism, hypermetropia, multiple naevi (no CAL spots) 1 1 Johan den Dunnen
00377316 PatL PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - ? cleft palate; mitral valve prolapse; large dysplastic ears, long and thin nose, hypoplastic alae nasi, low nasal tip, short philtrum, dolichocephaly; broad thumbs; moderate intellectual disability; walk-34m; normal behaviour; joint laxity, myopia, cryptorchidism, 4 CAL spots 1 1 Johan den Dunnen
00377317 PatM PubMed: Verheije 2019, Journal: Verheije 2019 - M - - - - - - - ? velopharyngeal insufficiency; patent ductus arteriosus (surgery); bitemporal narrowing, downslanting palpebral fissures, malar hypoplasia, short philtrum, small mouth; short hands and feet; moderate/severe intellectual disability; walk-26m; autism; feeding problems, sleep disorder, GE-reflux, hypotonia, hyperlaxity, hypoplastic nipples 1 1 Johan den Dunnen
00377318 PatN PubMed: Verheije 2019, Journal: Verheije 2019 - F - - - - - - - ? cleft palate; tetralogy of fallot; short palpebral fissures, prominent nasal bridge, pointed nasal tip, thin upper lip, retrognathia; normal limbs; moderate/severe intellectual disability; not walking; hypotonia (lower limb more affected), conductive hearing loss, fair skin, astigmatism 1 1 Johan den Dunnen
00416608 203615 - - F no Germany - - - - - CPCMR Ventricular septal defect, Hypotonia, Motor delay, Expressive language delay, Pes planus, Gait ataxia, Neurodevelopmental abnormality, Impaired social interactions, Sleep disturbance, Delayed speech and language development, Genu valgum, Short stature 1 1 Andreas Laner
00433655 - - - - - - - - - - - CPCMR developmental delay, soft cleft palate, ventricular septal defect 1 1 Marketa Wayhelova
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