All individuals with variants in gene GATAD2B

33 entries on 1 page. Showing entries 1 - 33.
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00080965 - PubMed: Trujillano 2017 unaffected non-carrier parents - - - - - - - - GAND;MRD18 Mental retardation, autosomal dominant 18 (OMIM:615074) 1 1 Daniel Trujillano
00180938 - - - F - - - - - - - ? Global developmental delay (HP:0001263); Intellectual disability (HP:0001249); Language impairment (HP:0002463) 1 1 IMGAG
00183066 23033978-Trio69 PubMed: de Ligt 2012 - F - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00245887 - - - F - - - - - - - ? HP:0000256 (Macrocephaly) 1 1 IMGAG
00246694 P18 PubMed: Vera 2020 - F no Italy;(Italy) Italian - 1 - - GAND;MRD18 birth 41+2w; birth weight 4000g, length 54.5cm, OFC 37cm; weight +1.5 SD, height 2 SD, OFC +3.4 SD; no neonatal hypotonia; global developmental delay (HP:0001263); motor delay; 14m-sit; 22m-walk; speech delay (HP:0002463); 18m-first words; moderate intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; no strabismus; MRI brain abnormalities, white matter signal, myelination delay, ventriculomegaly enlarged CSF space; macrocephaly (HP:0000256); dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes (HP:0000490); hypertelorism; periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; broad mouth (HP:0000154); no downturned mouth; thin upper lip; pointed chin; no blond hair; no thin hair; hands/feet anomalies; long fingers; no clinodactyly; ataxia (HP:0001251); dystonia (HP:0001332) 1 1 Emanuela Leonardi
00299687 - - - M - - - - - - - ? Global developmental delay (HP:0001263); Echogenic intracardiac focus (HP:0010942); Macrocephaly (HP:0000256) 1 1 Andreas Laner
00302766 1907.666 PubMed: Hamdan 2015 - F - Canada - - - - - ID severe intellectual disability; no speech; walk-22m; epilepsy; no autistic features; no microcephaly; no macrocephaly; MRI brain myelination delay; no congenitial malformations; no cardiac malformations; no urogenitory abnormalities; dysmorphic features (epicanthal fold, prognathism, widely spaced teeth) 1 1 Johan den Dunnen
00315903 P1 PubMed: Vera 2020 - M - France white - - - - NDD birth 39w; birth weight 2830g, length 50cm, OFC 35.5cm; weight 2 SD, height +1.5 SD, OFC +2.5 SD; no neonatal hypotonia; motor delay; 10m-sit; 24m-walk; speech delay; 2.5y-first words; moderate intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; pointed chin; blond hair; no thin hair; hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315904 P2 PubMed: Vera 2020 - M - France white - - - - NDD birth 40w; birth weight 3100g, length 50cm, OFC 37.5cm; weight 1 SD, height −1 SD, OFC +3.5 SD; no neonatal hypotonia; motor delay; 24m-walk; speech delay; severe intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; no vision disorder; no strabismus; MRI brain no abnormalities, no white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; no hypertelorism; no periorbital fullness; ear anomalies; large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; downturned mouth; no thin upper lip; no blond hair; thin hair; no hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315905 P3 PubMed: Vera 2020 - M - France white - - - - NDD birth 38w; birth weight 3580g, length 50cm, OFC 36cm; weight −1 SD, height −1 SD, OFC 3 SD; no neonatal hypotonia; motor delay; 9m-sit; 26m-walk; speech delay; 3y-first words; moderate intellectual deficiency; behavioral problems; feeding difficulties; no deafness; no vision disorder; no strabismus; MRI brain abnormalities, white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; downturned mouth; thin upper lip; pointed chin; blond hair; no thin hair; hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315906 P4 PubMed: Vera 2020 - F - France white - - - - NDD birth 38w; birth weight 2980g, length 48.5cm, OFC 35cm; weight 0 SD, height −1 SD, OFC 2 SD; neonatal hypotonia; motor delay; 13m-sit; 29m-walk; speech delay; 18m-first words; moderate intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; constipation; no deafness; no vision disorder; no strabismus; no macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; no hypertelorism; no periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; pointed chin; no blond hair; no thin hair; hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315907 P5 PubMed: Vera 2020 - M - France white - - - - NDD birth 39w; birth weight 3400g, length 50cm; weight +0.5 SD, height 1 SD, OFC 2 SD; neonatal hypotonia; motor delay; 13m-sit; speech delay; na; behavioral problems; feeding difficulties; no sleep disorder; no constipation; no deafness; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; no broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; no ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; pointed chin; no blond hair; thin hair; hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315908 P6 PubMed: Vera 2020 - M - France white - - - - NDD birth 39w; birth weight 2980g, length 51.5cm, OFC 35.8cm; weight 0 SD, height 1 SD, OFC +1.5 SD; neonatal hypotonia; motor delay; 9m-sit; 27m-walk; speech delay; <1y-first words; mild intellectual deficiency; behavioral problems; feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; no hypertelorism; no periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; downturned mouth; no thin upper lip; pointed chin; no blond hair; no thin hair; hands/feet anomalies; clinodactyly 1 1 Johan den Dunnen
00315909 P7 PubMed: Vera 2020 - F - France white - - - - NDD birth 40w; birth weight 3431g, length 51cm; weight −2 SD, height −2.5 SD, OFC +1.5 SD; neonatal hypotonia; motor delay; 14m-sit; 3y6m-walk; speech delay; 3.5y-4y-first words; moderate intellectual deficiency; no behavioral problems; feeding difficulties; no sleep disorder; constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; deeply set eyes; hypertelorism; no periorbital fullness; ear anomalies; large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; broad mouth; downturned mouth; no thin upper lip; pointed chin; no blond hair; no hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315910 P8 PubMed: Vera 2020 - M - France white - - - - NDD birth 37+6w; birth weight 2800g, length 49.5cm, OFC 36cm; weight 0 SD, height −1.5 SD, OFC 3 SD; neonatal hypotonia; motor delay; >1y-sit; 2y6m-walk; speech delay; behavioral problems; no sleep disorder; no deafness; strabismus; MRI brain no abnormalities; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; no deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; no large/prominent nose; tubular shaped nose; wide nasal base; short philtrum; broad mouth; downturned mouth; thin upper lip; blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315911 P9 PubMed: Vera 2020 - M - France white - - - - NDD birth 38w; birth weight 2610g, length 46cm, OFC 34.5cm; weight −2.5 SD, height −2 SD, OFC −1.5 SD; no neonatal hypotonia; motor delay; >1y-sit; 5y-walk; speech delay; 3y-first words; moderate/severe intellectual deficiency; behavioral problems; feeding difficulties; sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain no abnormalities, white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; no macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; periorbital fullness; ear anomalies; large/prominent nose; tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; downturned mouth; thin upper lip; pointed chin; blond hair; no thin hair; hands/feet anomalies; long fingers; clinodactyly 1 1 Johan den Dunnen
00315912 P10 PubMed: Vera 2020 - M - France white - - - - NDD birth 41w; birth weight 4100g, length 52cm, OFC 36cm; weight −0.8 SD, height −1.5 SD, OFC +1.5 SD; neonatal hypotonia; motor delay; 18m-sit; 3y-walk; speech delay; 4y-first words; moderate/severe intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; no vision disorder; strabismus; MRI brain abnormalities, white matter signal, myelination delay, no ventriculomegaly enlarged CSF space; no macrocephaly; no dysmorphic features; broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; short philtrum; no broad mouth; no downturned mouth; no thin upper lip; blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315913 P11 PubMed: Vera 2020 - M - France white - - - - NDD birth 38w; birth weight 3140g, length 52cm, OFC 37.5cm; weight +0.5 SD, height +0.75 SD, OFC 4 SD; neonatal hypotonia; motor delay; 18m-sit; 5y-walk; speech delay; 6y-first words; moderate intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain abnormalities, white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; no deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; no blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315914 P12 PubMed: Vera 2020 - F - Germany white - - - - NDD birth 38w; birth weight 2840g, length 51cm, OFC 35cm; weight −0.4 SD, height −1 SD, OFC −0.38 SD; neonatal hypotonia; motor delay; 18m-sit; 2y9m-walk; speech delay; moderate intellectual deficiency; behavioral problems; feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; no strabismus; MRI brain no abnormalities; no macrocephaly; no dysmorphic features; broad forehead; no narrow palpebral fissures; no deeply set eyes; no hypertelorism; periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; blond hair; thin hair; hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315915 P13 PubMed: Vera 2020 - M - United Kingdom (Great Britain) - - - - - NDD birth 38w; birth weight 3800g, length 50cm, OFC 41cm; weight −2.3 SD, height −2.5 SD, OFC +3.5 SD; neonatal hypotonia; motor delay; 12m-sit; 3y-walk; speech delay; profound intellectual deficiency; behavioral problems; feeding difficulties; sleep disorder; constipation; no deafness; no vision disorder; strabismus; MRI brain abnormalities, no white matter signal, no myelination delay, ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; wide nasal base; short philtrum; broad mouth; no downturned mouth; thin upper lip; pointed chin; blond hair; thin hair; no hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315916 P14 PubMed: Vera 2020 - M - Belgium Bakhtiari-Iran - - - - NDD birth 39w; birth weight 3350g, length 50cm; weight +0.58 SD, height −0.64 SD, OFC +1.72 SD; neonatal hypotonia; motor delay; 11m-sit; 2y6m-walk; speech delay; moderate/severe intellectual deficiency; behavioral problems; feeding difficulties; no sleep disorder; no constipation; deafness; no vision disorder; strabismus; MRI brain abnormalities, white matter signal, myelination delay, no ventriculomegaly enlarged CSF space; mild macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; no deeply set eyes; hypertelorism; no periorbital fullness; ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; broad mouth; downturned mouth; no thin upper lip; pointed chin; blond hair; no thin hair; no hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315917 P15 PubMed: Vera 2020 - F - France white - - - - NDD birth at term; birth weight 3800g, length 50cm; weight SD, height SD, OFC +2.34 SD; no neonatal hypotonia; motor delay; 3y-walk; speech delay; 4y10m-first words; severe intellectual deficiency; behavioral problems; no feeding difficulties; sleep disorder; no constipation; no deafness; no vision disorder; no strabismus; macrocephaly; dysmorphic features; no broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; periorbital fullness; no ear anomalies; large/prominent nose; tubular shaped nose; short philtrum; pointed chin; no blond hair; no hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315918 P16 PubMed: Vera 2020 - F - Germany - - - - - NDD birth 41w; birth weight 3400g, length 51cm, OFC 36cm; weight −1.75 SD, height −0.68 SD, OFC +2.45 SD; no neonatal hypotonia; motor delay; 21m-sit; 4y-walk; speech delay; severe intellectual deficiency; no behavioral problems; feeding difficulties; no sleep disorder; no constipation; no deafness; strabismus; MRI brain abnormalities, white matter signal, myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; narrow palpebral fissures; deeply set eyes; hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; wide nasal base; no short philtrum; no broad mouth; no downturned mouth; thin upper lip; no pointed chin; blond hair; thin hair; no hands/feet anomalies; no long fingers; no clinodactyly 1 1 Johan den Dunnen
00315919 P17 PubMed: Vera 2020 - F - Germany - - - - - NDD birth 42w; birth weight 4075g, length 55cm, OFC 38cm; weight 0 SD, height 0 SD, OFC 0 SD; no neonatal hypotonia; motor delay; 14m-sit; 24m-walk; speech delay; 18m-first words; moderate intellectual deficiency; no behavioral problems; no feeding difficulties; no sleep disorder; no constipation; no deafness; vision disorder; strabismus; MRI brain no abnormalities; no macrocephaly; no dysmorphic features; no broad forehead; no narrow palpebral fissures; no deeply set eyes; no hypertelorism; no periorbital fullness; no ear anomalies; no large/prominent nose; no tubular shaped nose; no wide nasal base; no short philtrum; no broad mouth; no downturned mouth; no thin upper lip; no pointed chin; no blond hair; no thin hair 1 1 Johan den Dunnen
00315920 P19 PubMed: Vera 2020 - M - France Madagascar Malagasy - - - - NDD birth 38w; birth weight 3650g, length 52cm, OFC 41cm; weight +0.5SD, height 0 SD, OFC +2.5 SD; neonatal hypotonia; motor delay; 12m; 2y6m-walk; speech delay; severe intellectual deficiency; behavioral problems; no feeding difficulties; no sleep disorder; no deafness; vision disorder; no strabismus; MRI brain abnormalities, white matter signal, no myelination delay, no ventriculomegaly enlarged CSF space; macrocephaly; dysmorphic features; broad forehead; no narrow palpebral fissures; no deeply set eyes; hypertelorism; no ear anomalies; large/prominent nose; no tubular shaped nose; wide nasal base; short philtrum; broad mouth; no downturned mouth; no thin upper lip; no pointed chin; no blond hair; no thin hair; no hands/feet anomalies; long fingers; no clinodactyly 1 1 Johan den Dunnen
00320167 - - - M - - - - - - - ? Global developmental delay (HP:0001263) 1 1 IMGAG
00334590 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 12 LOVD
00334591 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 9 LOVD
00334592 - PubMed: Maranhao 2015 analysis 25 Pedigrees - - Pakistan - - - - - retinal disease - 1 9 LOVD
00361511 14DG0271 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - ID not syndromic; intellectual disability and strabismus 1 1 Johan den Dunnen
00361924 151741 - - F ? Germany - - - - - MRD (+) Dolichocephaly,(+) Low-set ears,(+) Strabismus,(+) Delayed speech and language development,(+) Muscular hypotonia,(+) Global developmental delay,(+) Abnormal foot morphology,(+) Pes planus,(+) Expressive language delay,(+) Pes valgus,(+) Receptive language delay,(+) Splayed toes,(+) Wide nasal base,(+) Exodeviation 1 1 Andreas Laner
00440370 PED2139.1 PubMed: Nambot 2018 - - - France - - - - - ? - 1 1 Johan den Dunnen
00457920 - - - M - - (not applicable) white - - - - NDD HP:0001249, HP:0000256 1 1 Marketa Wayhelova
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