All individuals with variants in gene HIBCH

4 entries on 1 page. Showing entries 1 - 4.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00151386 - - - F - (Germany) - - 0 - - ? Symmetric lesions of the basal ganglia (HP:0007039); Dyskinesia (HP:0100660) 1 1 IMGAG
00205864 patient3 - - F no China - - 0 - - epilepsy - 2 1 Jinliang Li
00269346 - - - M - - - - 0 - - ? Severe global developmental delay (HP:0011344); Seizures (HP:0001250); Dystonia (HP:0001332) 1 1 Andreas Laner
00295543 - - - F - - - - 0 - - ? Seizures (HP:0001250); Encephalopathy (HP:0001298) 1 1 Andreas Laner
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