All individuals with variants in gene MCPH1

22 entries on 1 page. Showing entries 1 - 22.
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00000019 - PubMed: Almomani 2011 - - - - - - - - - autism, BMD/DMD, TSC - 1 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) 1 1 Yu Sun
00150178 26539891-FamBAB3640 PubMed: Karaca 2015 - - - - - - - family structure in paper - ? schizencephaly 1 2 Johan den Dunnen
00294654 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 39 Mohammed Faruq
00361572 11DG1811 PubMed: Anazi 2017 familial M yes Saudi Arabia - - - - - ID not syndromic; global developmental delay and primary microcephaly 1 1 Johan den Dunnen
00433354 Pat23 PubMed: Duerinckx 2021 patient F yes Belgium - - - - - microcephaly primary microcephaly; birth OFC (SD-3), weigth median, length (SD-1); OFC (SD-5.5), weigth (SD+0.5), length (SD-1); no epilepsy; severe intellectual disability; MRI enlarged ventricles, delayed myelinization; birth OFC (SD-3), weigth median, length (SD-1); OFC (SD-5.5), weigth (SD+0.5), length (SD-1); no epilepsy; severe intellectual disability; MRI enlarged ventricles, delayed myelinization 1 1 Johan den Dunnen
00433355 Pat24 PubMed: Duerinckx 2021 patient M yes Morocco - - - - - microcephaly primary microcephaly; birth OFC (SD-2.5), weigth (SD-1), length (SD-3); OFC (SD-9), weigth (SD-2.5), length (SD-4.5); no epilepsy; IQ<42 (Terman‐Merill); MRI simplified pattern; birth OFC (SD-2.5), weigth (SD-1), length (SD-3); OFC (SD-9), weigth (SD-2.5), length (SD-4.5); no epilepsy; IQ<42 (Terman‐Merill); MRI simplified pattern 1 1 Johan den Dunnen
00433356 Pat25 PubMed: Duerinckx 2021 patient F yes Turkey - - - - - microcephaly primary microcephaly; birth OFC (SD-5), weigth (SD-2), length (SD-3); OFC (SD-6), weigth (SD-1), length (SD-0.5); no epilepsy; IQ63 (WPPSI‐R); MRI simplified pattern, multiple grey matter ectopias, cyst of the Rathke pouch; birth OFC (SD-5), weigth (SD-2), length (SD-3); OFC (SD-6), weigth (SD-1), length (SD-0.5); no epilepsy; IQ63 (WPPSI‐R); MRI simplified pattern, multiple grey matter ectopias, cyst of the Rathke pouch 1 1 Johan den Dunnen
00433359 FamPatII1/3;Pat28 PubMed: Duerinckx 2018, PubMed: Duerinckx 2021 2-generation family, affected sister/brother F yes Morocco - - - - - microcephaly primary microcephaly, hyperkinesia; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter; OFC (SD-4), weigth (SD-1), length (SD-2); 8y-generalized, tonic‐clonic, treatment VPA; severe intellectual disability, no speech; MRI atrophy of the corpus callosum and cerebellum, abnormal signals in the supratentorial white matter 1 3 Johan den Dunnen
00433370 FamPatII2 PubMed: Duerinckx 2018 unaffected sister F yes Morocco - - - - - Healthy/Control - 1 1 Johan den Dunnen
00433721 M-019 PubMed: Darvish 2010 family, 6 affected - yes Iran - - - - - microcephaly moderate intellectual disability; microcephaly (OFC -3SD) 1 6 Johan den Dunnen
00433722 M-282 PubMed: Darvish 2010 family, 2 affected - yes Iran - - - - - microcephaly moderate intellectual disability; microcephaly (OFC -10 to -11SD) 1 2 Johan den Dunnen
00433723 M-8600133 PubMed: Darvish 2010 family, 3 affected - yes Iran - - - - - microcephaly moderate intellectual disability; microcephaly (OFC -6SD) 1 3 Johan den Dunnen
00433724 M-8700008 PubMed: Darvish 2010 family, 3 affected - yes Iran - - - - - microcephaly mild/moderate intellectual disability; microcephaly (OFC -6 to -8SD) 1 3 Johan den Dunnen
00433725 M-8700012 PubMed: Darvish 2010 family, 2 affected - yes Iran - - - - - microcephaly severe intellectual disability; microcephaly (OFC -9SD) 1 2 Johan den Dunnen
00433726 M-8700070 PubMed: Darvish 2010 family, 4 affected - yes Iran - - - - - microcephaly moderate intellectual disability; microcephaly (OFC -7 to -9SD) 1 4 Johan den Dunnen
00433727 M-8700071 PubMed: Darvish 2010 family, 2 affected - yes Iran - - - - - microcephaly mild/moderate intellectual disability; microcephaly (OFC -6 to -10SD) 1 2 Johan den Dunnen
00433728 M-8700173 PubMed: Darvish 2010 family, 3 affected - yes Iran - - - - - microcephaly mild/moderate intellectual disability; microcephaly (OFC -6 to -7SD) 1 3 Johan den Dunnen
00433755 MCP61 PubMed: Sajid Hussain 2013 family, 1 affected - - Pakistan - - - - - microcephaly microcephaly; aggressive behavior, speech not understandable, no seizure, normal height, normal weight 1 1 Johan den Dunnen
00433888 FamMC4PatIII3 PubMed: Kraemer 2016 family - yes Pakistan - - - - - microcephaly microcephaly, OFC 49cm (SD-5,04); very mild intellectual disability 1 1 Johan den Dunnen
00433947 MCP118 PubMed: Ahmad 2017 5-generation family, 7 affected (F, 6M), unaffected heterozygous parents/relatives F;M yes Pakistan Punjab - - - - microcephaly microcephaly, OFC SD-6 to -7; mild mental retardation, self-care skills, socially active and friendly behavior, no limb and digital malformations, normal height and weight, normal motor skills, EEG MCP118-6 showed generalized sharp spike wave complex only on one occasion 1 7 Johan den Dunnen
00433951 MCP125 PubMed: Ahmad 2017 5-generation family, 3 affected (3M), unaffected heterozygous parents/relatives M yes Pakistan Baloch - - - - microcephaly microcephaly, OFC SD-6 to -7; mild mental retardation, self-care, frustration level high, partly self care skills, normal motor skills, normal height, no digital and limb malformations 1 3 Johan den Dunnen
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