Phenotypes for disease #00008 (CAAHD (arthrogryposis, lethal, with anterior horn cell, congenital (CAAHD)), OMIM:611890)

16 entries on 1 page. Showing entries 1 - 16.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Inheritance     

Age/Examination     

Diagnosis/Definite     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

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Owner     

Individual ID     
0000002022 infantile spasms, ECG-hypsarrhythmia, mental retardation, epilepsy - Familial, X-linked recessive - - - - - - Johan den Dunnen 00003182
0000002094 - - Isolated (sporadic) - - - - - - Johan den Dunnen 00003255
0000232712 - lethal arthrogryposis with anterior horn cell diseas Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306884
0000232713 - lethal arthrogryposis with anterior horn cell diseas Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306885
0000232714 - lethal arthrogryposis with anterior horn cell diseas Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306886
0000232715 - lethal arthrogryposis with anterior horn cell diseas Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306887
0000232716 - lethal arthrogryposis with anterior horn cell diseas Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306888
0000232717 - lethal arthrogryposis with anterior horn cell diseas Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306889
0000232718 - lethal arthrogryposis with anterior horn cell diseas Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306890
0000232719 - lethal arthrogryposis with anterior horn cell diseas Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306891
0000232720 - lethal arthrogryposis with anterior horn cell diseas Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306892
0000232721 distinct congenital arthrogryposis, prolonged survival after birth; autopsy revealed typical neurogenic muscle atrophy, loss of anterior horn cells spinal cord severe infantile spinal muscular atrophy Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306893
0000232722 see paper; ... congenital Arthrogryposis with anterior horn cell disease Familial, autosomal recessive 05y01m CAAHD - - - - Johan den Dunnen 00306894
0000232723 see paper; ..., 4y-deceased congenital arthrogryposis with anterior horn cell disease Familial, autosomal recessive 04y CAAHD - - - - Johan den Dunnen 00306895
0000232724 see paper; ... congenital arthrogryposis with anterior horn cell disease Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306896
0000232725 see paper; ... arthrogryposis multiplex congenita Familial, autosomal recessive - CAAHD - - - - Johan den Dunnen 00306897
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