All individuals with variants in gene TCF4

151 entries on 2 pages. Showing entries 1 - 100.
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00000029 - PubMed: Almomani 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00037224 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037225 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037226 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037227 - - - - - Germany - - 0 - - ? hypotonia 1 1 Andreas Laner
00037228 - - - - - Germany - - 0 - - ? developmental delay 1 1 Andreas Laner
00037229 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037230 - - - - - Germany - - 0 - - ? DD Pitt-Hopkins syndrome, Williams-Beuren syndrome, retardation syndrome with facial abnormalities,developmental delay, perinatal CMV-Infection, relapsing fever, epilepsy; MGZ 62155: developmental retardation; MGZ 76984: mikrocephaly, abnormal development, perinatal CMV-Infection, relapsing fever 1 1 Andreas Laner
00037231 - - - - - Germany - - 0 - - ? Rett syndrome-phenotype without MECP2-mutations 1 1 Andreas Laner
00037232 - - - - - Germany - - 0 - - - - 1 1 Andreas Laner
00037233 - - - - - Germany - - 0 - - ? no development of speech 1 1 Andreas Laner
00050495 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? polyhydramnios, congenital diaphragmatic hernia, abnormality of the esophagus, cerebral atrophy, bilateral single transverse palmar creases, epicanthus 1 1 Johan den Dunnen
00050521 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, global developmental delay, joint hypermobility, proportionate short stature, delayed speech and language development 1 1 Johan den Dunnen
00050538 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? microcephaly, muscular hypotonia, short philtrum, upslanted palpebral fissure 1 1 Johan den Dunnen
00101234 P1 - - M no China - >01y 0 - - ID HP:0001999 HP:0001290 1 1 Wenjuan Qiu
00111400 S_047 - - F no - - - 0 - - PTHS Hypotonia, developmental delay 1 1 Bernt Popp
00112648 - PubMed: Kalscheuer 2008 - F - - - - 0 - - ? see paper; ..., mild to moderate mental retardation (HP:0001249), minor facial anomalies (HP:0000271) 2 1 Irina Giurgea
00112649 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112650 - PubMed: Amiel 2007 - F - - - - 0 - - PTHS severe mental retardation 1 1 Johan den Dunnen
00112651 - PubMed: Zweier 2007; PubMed: Peippo 2006 - M - - - - 0 - - PTHS severe mental retardation 1 1 Johan den Dunnen
00112652 - PubMed: Andrieux 2008 - M - - - - 0 - - PTHS severe developmental delay, dysmorphic features, limb anomalies, growth retardation, hypoplastic vermis and corpus callosum, no tachypnoea-apnoea paroxysms; severe mental retardation 1 1 Johan den Dunnen
00112653 - Gustavsson - - - - - - 0 - - PTHS severe mental retardation 1 1 Johan den Dunnen
00112654 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112655 - PubMed: Giurgea 2008 - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112656 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112657 - PubMed: Giurgea 2008 - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112658 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112659 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112660 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112661 - PubMed: Kato 2010 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112662 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112663 - PubMed: Marangi 2011 - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112664 - - - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112665 - - - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112666 - - - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112667 - - - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112668 - PubMed: Rosenfeld 2009 - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112669 - PubMed: Rosenfeld 2009 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112670 - PubMed: Rosenfeld 2009 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112671 - PubMed: Brockschmidt 2007 - F - - - - 0 - - PTHS severe mental retardation, absent speech, pronounced muscular hypotonia, ataxia, distinctive facial features (coarse face, broad nasal bridge, wide mouth), hyperventilation attacks 1 1 Johan den Dunnen
00112672 - - - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112673 - - - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112674 - - - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112675 - PubMed: Rosenfeld 2009 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112676 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112677 - - - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112678 - - - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112679 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112680 - - - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112681 - PubMed: Rosenfeld 2009 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112682 - PubMed: Rosenfeld 2009 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112683 - PubMed: Rosenfeld 2009 - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112684 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112685 - PubMed: Zweier 2007; PubMed: Peippo 2006; {OMIM602272:00004} - F - - - - 0 - - PTHS lymphoma; severe mental retardation 1 1 Johan den Dunnen
00112686 - PubMed: Lehalle 2011 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112687 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112688 - PubMed: Zweier 2007; PubMed: Peippo 2006 - - - - - - 0 - - PTHS severe mental retardation 1 1 Johan den Dunnen
00112689 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112690 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112691 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112692 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112693 - - - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112694 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112695 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112696 - PubMed: Zweier 2007; PubMed: Peippo 2006 - F - - - - 0 - - PTHS severe mental retardation 1 1 Johan den Dunnen
00112697 - - - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112698 - PubMed: Giurgea 2008 - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112699 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112700 - - - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112701 - - - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112702 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112703 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112704 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS severe mental retardation 1 1 Irina Giurgea
00112705 - PubMed: Takano 2010 - - - - - - 0 - - AS - 1 1 Irina Giurgea
00112706 - PubMed: Zweier 2007; PubMed: Peippo 2006 - M - - - - 0 - - PTHS constipation and unmotivated laughter episodes; severe mental retardation 1 1 Johan den Dunnen
00112707 - - - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112708 - - - F - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112709 - - - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112710 - - - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112711 - PubMed: Marangi 2011 - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112712 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112713 - - - F - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112714 - PubMed: Marangi 2011 - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112715 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112716 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112717 - - - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112718 - PubMed: Lehalle 2011 - - - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112719 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112720 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112721 - PubMed: Marangi 2011 - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112722 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112723 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112724 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112725 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112726 - - - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112727 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112728 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112729 - - - M - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112730 - - - F - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
00112731 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS Severe Mental_Retardation 1 1 Irina Giurgea
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