Disease Term Disease ID Gene Symbol References
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 3 C4225362 TP53BP1
TUBGCP4 25817018
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 2 C4015388 PLK4 25344692
MICROCEPHALY AND CHORIORETINOPATHY, AUTOSOMAL RECESSIVE, 1 C3278481 TUBGCP6 22279524
Microcephaly with Chorioretinopathy, Autosomal Dominant C3501946 KIF11 22284827
Microcephaly with Chorioretinopathy, Autosomal Recessive C3502492 TP53BP1 25817018
PLK4 27650967
TUBGCP4 25817018
TUBGCP6 22279524