Phenotypes for disease #00742 (PTHS (Pitt-Hopkins syndrome (PTHS)), OMIM:610954)

111 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000087485 Hypotonia, developmental delay - - Isolated (sporadic) - - - - - Bernt Popp 00111400
0000088131 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112649
0000088132 severe mental retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112650
0000088133 severe mental retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112651
0000088134 severe developmental delay, dysmorphic features, limb anomalies, growth retardation, hypoplastic vermis and corpus callosum, no tachypnoea-apnoea paroxysms; severe mental retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112652
0000088135 severe mental retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112653
0000088136 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112654
0000088137 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112655
0000088138 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112656
0000088139 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112657
0000088140 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112658
0000088141 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112659
0000088142 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112660
0000088143 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112661
0000088144 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112662
0000088145 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112663
0000088146 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112664
0000088147 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112665
0000088148 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112666
0000088149 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112667
0000088150 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112668
0000088151 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112669
0000088152 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112670
0000088153 severe mental retardation, absent speech, pronounced muscular hypotonia, ataxia, distinctive facial features (coarse face, broad nasal bridge, wide mouth), hyperventilation attacks - - Isolated (sporadic) - - - - - Johan den Dunnen 00112671
0000088154 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112672
0000088155 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112673
0000088156 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112674
0000088157 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112675
0000088158 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112676
0000088159 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112677
0000088160 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112678
0000088161 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112679
0000088162 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112680
0000088163 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112681
0000088164 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112682
0000088165 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112683
0000088166 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112684
0000088167 lymphoma; severe mental retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112685
0000088168 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112686
0000088169 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112687
0000088170 severe mental retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112688
0000088171 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112689
0000088172 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112690
0000088173 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112691
0000088174 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112692
0000088175 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112693
0000088176 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112694
0000088177 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112695
0000088178 severe mental retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112696
0000088179 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112697
0000088180 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112698
0000088181 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112699
0000088182 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112700
0000088183 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112701
0000088184 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112702
0000088185 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112703
0000088186 severe mental retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112704
0000088188 constipation and unmotivated laughter episodes; severe mental retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112706
0000088189 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112707
0000088190 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112708
0000088191 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112709
0000088192 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112710
0000088193 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112711
0000088194 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112712
0000088195 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112713
0000088196 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112714
0000088197 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112715
0000088198 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112716
0000088199 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112717
0000088200 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112718
0000088201 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112719
0000088202 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112720
0000088203 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112721
0000088204 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112722
0000088205 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112723
0000088206 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112724
0000088207 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112725
0000088208 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112726
0000088209 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112727
0000088210 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112728
0000088211 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112729
0000088212 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112730
0000088213 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112731
0000088214 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112732
0000088215 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112733
0000088216 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112734
0000088217 Severe Mental_Retardation - - Familial, autosomal dominant - - - - - Irina Giurgea 00112735
0000088218 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112736
0000088219 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112737
0000088220 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112738
0000088221 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112739
0000088222 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112740
0000088223 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112741
0000088224 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112742
0000088225 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Johan den Dunnen 00112743
0000088226 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112744
0000088227 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112745
0000088228 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112746
0000088229 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112747
0000088230 Severe Mental_Retardation - - Isolated (sporadic) - - - - - Irina Giurgea 00112748
Legend   How to query   « First ‹ Prev     1 2     Next › Last »