All individuals with variants in gene MFSD2A

16 entries on 1 page. Showing entries 1 - 16.
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00104036 Vogelaar-759A PubMed: Vogelaar 2017, Journal: Vogelaar 2017 54 patients from 53 families with genetically unexplained diffuse-type and intestinal-type gastric cancer - - - - - - - - cancer, gastric diffuse-type or intestinal-type gastric cancer 1 1 Marjolijn JL Ligtenberg
00265259 MFSD2A - - - yes Iran - - - - - microcephaly - 1 1 Ehsan Razmara
00276067 FamAPat1 PubMed: Scala 2020 2-generation family, 1 affected F yes Iran - - - - - NEDMISBA;MCPH15 no premature death; OFC birth 28 cm (-4.6 SDS), OFC 41 cm (-5.6 SDS); global developmental delay; not sitting; not walking; no speech; no behavioral abnormalities; appendicular spasticity; axial hypotonia; seizures; dysphagia; talipes equinovarus; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia 1 1 Marcello Scala
00276070 FamBPat2 PubMed: Scala 2020 2-generation family, 2 affected brothers M yes Iran - - - - - NEDMISBA;MCPH15 no premature death; OFC birth 27 cm (-3.9 SDS), OFC 37 cm (-8.8 SDS); global developmental delay; not sitting; not walking; severely delayed speech; no behavioral abnormalities; appendicular spasticity; no axial hypotonia; seizures; no dysphagia; talipes equinovarus; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia 1 2 Marcello Scala
00276071 FamCPat3 PubMed: Scala 2020 2-generation family, 4 affected sibs (2F, 2M) F yes Pakistan - - - - - NEDMISBA;MCPH15 no premature death; OFC 49 cm (-5.0 SDS); global developmental delay; sit; walk; severely delayed speech; severe intellectual disability; aggressive behavior; appendicular spasticity; no axial hypotonia; no seizures; no dysphagia; no skeletal abnormalities; MRI moderate WM thinning with ventricular dilatation, mild simplified gyral pattern, mild corpus callosum hypoplasia, inferior vermian hypoplasia, no pontine hypoplasia 1 4 Marcello Scala
00276074 FamDPat5 PubMed: Scala 2020 2-generation family, 1 affected M no Russia - - - - - NEDMISBA;MCPH15 no premature death; OFC 46 cm (-3.6 SDS); global developmental delay; sit; not walking; no speech; severe intellectual disability; no behavioral abnormalities; no appendicular spasticity; axial hypotonia; seizures; dysphagia; no skeletal abnormalities; MRI mild WM thinning with ventricular dilatation, mild simplified gyral pattern, mild corpus callosum hypoplasia, inferior vermian hypoplasia, no pontine hypoplasia 2 1 Marcello Scala
00276075 FamEPat6 PubMed: Scala 2020 2-generation family, 2 affected sibs (F, M) F yes Saudi Arabia - - - - - NEDMISBA;MCPH15 no premature death; OFC birth 28.5 cm (-3.6 SDS); global developmental delay; not sitting; not walking; no speech; severe intellectual disability; no behavioral abnormalities; appendicular spasticity; no axial hypotonia; seizures; dysphagia; no skeletal abnormalities; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia 1 1 Marcello Scala
00276076 FamFPat7 PubMed: Scala 2020 2-generation family, 1 affected M yes Saudi Arabia - - - - - NEDMISBA;MCPH15 no premature death; OFC birth 25.5 cm (-6 SDS), OFC 36 cm (-8.9 SDS); global developmental delay; not sitting; not walking; no speech; severe intellectual disability; no behavioral abnormalities; appendicular spasticity; no axial hypotonia; seizures; dysphagia; talipes equinovarus; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia 1 1 Marcello Scala
00276077 FamGPat8 PubMed: Scala 2020 2-generation family, 1 affected F yes Saudi Arabia - - - - - NEDMISBA;MCPH15 no premature death; OFC birth 30.5 cm (-2.4 SDS), OFC 36 cm (-3.9 SDS); global developmental delay; sit; not walking; no speech; severe intellectual disability; no behavioral abnormalities; appendicular spasticity; no axial hypotonia; seizures; dysphagia; talipes equinovarus, bilateral developmental dysplasia hip; MRI severe WM thinning with ventricular dilatation, severe simplified gyral pattern, severe corpus callosum hypoplasia, inferior vermian hypoplasia, pontine hypoplasia 1 1 Marcello Scala
00317994 PKMR97 PubMed: Riazuddin 2017 - - yes Pakistan - - - - - ID Moderate to severe ID, non-talkative 1 1 Johan den Dunnen
00387814 M8700073 PubMed: Hu 2019 family, 3 affected individuals, first cousin parents - yes Iran Baloch - - - - ID no premature death; OFC mean -4.3 SDS; global developmental delay (3/3); sit (3/3); walk (3/3); no speech (2/3); moderate-severe intellectual disability (3/3); no behavioral abnormalities; no appendicular spasticity, ataxia (3/3); no axial hypotonia; no seizures; no dysphagia; no skeletal abnormalities 1 3 Johan den Dunnen
00396960 FamCPat4 PubMed: Scala 2020 FamCPat4 F yes Pakistan - - - - - NEDMISBA;MCPH15 no premature death; OFC 47 cm (-6.9 SDS); global developmental delay; sit; walk; severely delayed speech; severe intellectual disability; aggressive behavior; appendicular spasticity; no axial hypotonia; no seizures; no dysphagia; no skeletal abnormalities; MRI moderate WM thinning with ventricular dilatation, mild simplified gyral pattern, mild corpus callosum hypoplasia, inferior vermian hypoplasia, no pontine hypoplasia 1 1 Johan den Dunnen
00396961 family PubMed: Harel 2018 2-generation family, affected brother/sister, unaffected heterozygous carrier parents F;M yes Morocco Jewish - - - - NEDMISBA;MCPH15 no premature death; OFC birth mean -2.5 SDS, OFC mean -3.25 SDS; global developmental delay (2/2); sit (2/2); not walking; severely delayed speech (2/2); intellectual disability (2/2); no behavioral abnormalities; appendicular spasticity, dystonia (2/2); axial hypotonia (2/2); no seizures; no dysphagia; no skeletal abnormalities; MRI WM thinning with ventricular dilatation (2/2) 1 2 Johan den Dunnen
00396962 family PubMed: Abe 2015 3-generation family, 10 affected (3F, 7M) F;M yes Pakistan - - - - - MCPH see paper; ..., OFC </= -3 SDS; global developmental delay; no/limited (10/10); severe intellectual disability (10/10); autism spectrum disorder (10/10); appendicular spasticity (3/10); no seizures; MRI WM thinning with ventricular dilatation 1 10 Johan den Dunnen
00396963 Fam1422 PubMed: Guemez-Gamboa 2015 4-generation family, 2 affected, sisters unaffected heterozygous carrier parents F yes Libya - - - - - NEDMISBA;MCPH15 see peper; ... 1 2 Johan den Dunnen
00396964 Fam1825 PubMed: Guemez-Gamboa 2015 4-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Egypt - - - - - NEDMISBA;MCPH15 see paper; ... 1 2 Johan den Dunnen
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