Disease #00742

Official abbreviation PTHS
Name Pitt-Hopkins syndrome (PTHS)
OMIM ID 610954
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 109
Phenotype entries for this disease 109
Associated with 1 gene TCF4
Associated tissues -
Disease features -
Remarks -


Individuals

109 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Genes screened

Variants in genes

Variants     

Panel size     

Owner     
00111400 S_047 - - F no - - - 0 - - PTHS Hypotonia, developmental delay TCF4 TCF4 1 1 Bernt Popp
00112649 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112650 - PubMed: Amiel 2007 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Johan den Dunnen
00112651 - PubMed: Zweier 2007; PubMed: Peippo 2006 - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 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 TCF4 TCF4 1 1 Johan den Dunnen
00112653 - Gustavsson - - - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Johan den Dunnen
00112654 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112655 - PubMed: Giurgea 2008 - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112656 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112657 - PubMed: Giurgea 2008 - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112658 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112659 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112660 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112661 - PubMed: Kato 2010 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112662 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112663 - PubMed: Marangi 2011 - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112664 - - - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112665 - - - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112666 - - - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112667 - - - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112668 - PubMed: Rosenfeld 2009 - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112669 - PubMed: Rosenfeld 2009 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112670 - PubMed: Rosenfeld 2009 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 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 TCF4 TCF4 1 1 Johan den Dunnen
00112672 - - - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112673 - - - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112674 - - - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112675 - PubMed: Rosenfeld 2009 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112676 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112677 - - - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112678 - - - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112679 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112680 - - - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112681 - PubMed: Rosenfeld 2009 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112682 - PubMed: Rosenfeld 2009 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112683 - PubMed: Rosenfeld 2009 - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112684 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112685 - PubMed: Zweier 2007; PubMed: Peippo 2006; {OMIM602272:00004} - F - - - - 0 - - PTHS lymphoma; severe mental retardation TCF4 TCF4 1 1 Johan den Dunnen
00112686 - PubMed: Lehalle 2011 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112687 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112688 - PubMed: Zweier 2007; PubMed: Peippo 2006 - - - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Johan den Dunnen
00112689 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112690 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112691 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112692 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112693 - - - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112694 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112695 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112696 - PubMed: Zweier 2007; PubMed: Peippo 2006 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Johan den Dunnen
00112697 - - - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112698 - PubMed: Giurgea 2008 - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112699 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112700 - - - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112701 - - - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112702 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112703 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112704 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS severe mental retardation TCF4 TCF4 1 1 Irina Giurgea
00112706 - PubMed: Zweier 2007; PubMed: Peippo 2006 - M - - - - 0 - - PTHS constipation and unmotivated laughter episodes; severe mental retardation TCF4 TCF4 1 1 Johan den Dunnen
00112707 - - - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112708 - - - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112709 - - - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112710 - - - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112711 - PubMed: Marangi 2011 - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112712 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112713 - - - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112714 - PubMed: Marangi 2011 - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112715 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112716 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112717 - - - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112718 - PubMed: Lehalle 2011 - - - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112719 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112720 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112721 - PubMed: Marangi 2011 - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112722 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112723 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112724 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112725 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112726 - - - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112727 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112728 - PubMed: Giurgea 2008 - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112729 - - - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112730 - - - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112731 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112732 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112733 - - - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112734 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112735 - PubMed: De Pontual 2008 - - - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112736 - PubMed: Zweier 2008 - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112737 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112738 - PubMed: Marangi 2011 - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112739 - - - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112740 - PubMed: Zweier 2008 - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112741 - PubMed: Amiel 2007; {OMIM602272:00001} - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Johan den Dunnen
00112742 - PubMed: Amiel 2007; {OMIM602272:00001} - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Johan den Dunnen
00112743 - PubMed: Zweier 2007; PubMed: Peippo 2006 - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Johan den Dunnen
00112744 - PubMed: Giurgea 2008; {OMIM602272:00001} - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112745 - PubMed: Marangi 2011 - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112746 - - - M - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112747 - PubMed: Amiel 2007; {OMIM602272:00002} - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
00112748 - - - F - - - - 0 - - PTHS Severe Mental_Retardation TCF4 TCF4 1 1 Irina Giurgea
Legend   « First ‹ Prev     1 2     Next › Last »