Search Result

 Top
1 to 2 of 2
Entry Name Description Category Pathway Gene
H00792 Warburg micro syndrome Warburg micro syndrome (WARBM) is a rare, autosomal recessive condition characterized by congenital microcephaly, mental retardation, microcornea, cataracts, hypotonic diplegia and hypothalamic hypogonadism ... Congenital malformation (WARBM1) RAB3GAP1 [HSA:22930] [KO:K18270]
(WARBM2) RAB3GAP2 [HSA:25782] [KO:K19937]
(WARBM3) RAB18 [HSA:22931] [KO:K07910]
(WARBM4) TBC1D20 [HSA:128637] [KO:K20372]
H00797 Martsolf syndrome Martsolf syndrome is a rare autosomal recessive condition that shows symptoms similar to Warburg Micro syndrome. It is characterized by severe mental retardation, congenital cataract, microcephaly, bone ... Congenital malformation (MARTS1) RAB3GAP2 [HSA:25782] [KO:K19937]
(MARTS2) RAB3GAP1 [HSA:22930] [KO:K18270]
1 to 2 of 2
[ KEGG | DISEASE | DRUG | MEDICUS ]