Phenotypes for disease #01662 (argininemia (argininemia), OMIM:207800)

100 entries on 1 page. Showing entries 1 - 100.
Legend   How to query  

AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000086065 response dietary therapy good - - Unknown - - - - - Johan den Dunnen 00108469
0000086066 response dietary therapy slow - - Unknown - - - - - Johan den Dunnen 00108471
0000086067 response dietary therapy good - - Isolated (sporadic) - - - - - Johan den Dunnen 00108472
0000086068 mental retardation, microcephaly, spastic tetraplegia, intermittent convulsions - - Unknown - - - - - Johan den Dunnen 00108478
0000086069 psychomotor retardation and spastic tetraplegia - - Unknown - - - - - Johan den Dunnen 00108481
0000086070 response dietary therapy good - - Isolated (sporadic) - - - - - Johan den Dunnen 00108482
0000086071 psychomotor retardation and spastic tetraplegia - - Unknown - - - - - Johan den Dunnen 00108484
0000297159 see paper; ... - - Familial, autosomal recessive - - - newborn screening - Johan den Dunnen 00404574
0000297160 see paper; ..., argininemia, progressive spastic diplegia argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404576
0000297161 see paper; ..., 6w-lethargy, poor feeding, severe encephalopathy caused by hyperammonemia; cerebral edema, seizures, spasticity, mild developmental delay argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404577
0000297162 see paper; ..., learning difficulties, spastic diplegia, controlled seizures,mild recurrent hyperammonemic episodes argininemia - Familial, autosomal recessive - 11y 03y - - Johan den Dunnen 00404578
0000297163 see paper; ..., learning difficulties, spastic diplegia, seizures, recurrent hyperammonemic episodes argininemia - Familial, autosomal recessive - - 08y - - Johan den Dunnen 00404579
0000297164 see paper; ..., developmental delay, spastic diplegia, seizures, recurrent hyperammonemic episodes argininemia - Familial, autosomal recessive - - 05y - - Johan den Dunnen 00404580
0000297165 see paper; ..., severe developmental delay, spastic diplegia, no seizures, no hyperammonemic episodes argininemia - Familial, autosomal recessive 39y - - - - Johan den Dunnen 00404581
0000297166 see paper; ..., learning difficulties, spastic diplegia, no seizures, recurrent hyperammonemic episodes argininemia - Familial, autosomal recessive - - 11y - - Johan den Dunnen 00404582
0000297167 see paper; ..., learning difficulties, spastic diplegia, seizures, two hyperammonemic episodes argininemia - Familial, autosomal recessive - - 05y - - Johan den Dunnen 00404583
0000297168 see paper; ... argininemia - Familial, autosomal recessive - - 00y00m36d - - Johan den Dunnen 00404584
0000297169 see paper; ... argininemia - Familial, autosomal recessive - - 00y00m21d - - Johan den Dunnen 00404585
0000297170 see paper; ... argininemia - Familial, autosomal recessive - - 00y00m23d - - Johan den Dunnen 00404586
0000297172 see paper; ..., spastic paraplegia, weakness bilateral lower limbs, tip-toeing gait argininemia - Familial, autosomal recessive 13y - - - - Johan den Dunnen 00404588
0000297173 see paper; ..., spastic gait, intellectual disability, seizures argininemia - Familial, autosomal recessive 20y - - - - Johan den Dunnen 00404589
0000297175 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404600
0000297176 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404601
0000297177 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404602
0000297178 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404603
0000297179 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404604
0000297180 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404605
0000297181 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404606
0000297182 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404607
0000297183 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404608
0000297184 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404609
0000297185 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404610
0000297186 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404611
0000297187 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404612
0000297188 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404613
0000297189 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404614
0000297190 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404615
0000297191 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404616
0000297192 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404617
0000297193 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404618
0000297194 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404619
0000297195 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404620
0000297196 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404621
0000297197 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404622
0000297198 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404623
0000297199 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404624
0000297200 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404625
0000297201 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404626
0000297202 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404627
0000297203 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404628
0000297204 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404629
0000297205 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404630
0000297206 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404631
0000297207 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404632
0000297208 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404633
0000297209 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404634
0000297210 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404635
0000297211 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404636
0000297212 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404637
0000297213 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404638
0000297214 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404639
0000297215 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404640
0000297216 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404641
0000297217 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404642
0000297218 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404643
0000297219 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404644
0000297220 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404645
0000297221 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404646
0000297222 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404647
0000297223 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404648
0000297224 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404649
0000297225 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404650
0000297226 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404651
0000297227 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404652
0000297228 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404653
0000297229 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404654
0000297230 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404655
0000297231 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404656
0000297232 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404657
0000297233 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404658
0000297234 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404659
0000297235 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404660
0000297236 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404661
0000297237 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404662
0000297238 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404663
0000297239 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404664
0000297243 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404668
0000297244 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404669
0000297245 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404670
0000297246 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404671
0000297247 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404672
0000297248 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404673
0000297249 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404674
0000297250 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404675
0000297251 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404676
0000297252 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404677
0000297253 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404678
0000297254 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404679
0000297255 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404680
0000297256 see paper; ... argininemia - Familial, autosomal recessive - - - - - Johan den Dunnen 00404681
Legend   How to query