Seizures, scoliosis, and macrocephaly/microcephaly syndrome

Disease Term Disease ID Gene Symbol Classification References Source
SEIZURES, SCOLIOSIS, AND MACROCEPHALY/MICROCEPHALY SYNDROME
616682
EXT2 Unknown — HPO
SEIZURES, SCOLIOSIS, MACROCEPHALY SYNDROME
C4225248
EXT2 Unknown — Disgenet
SEIZURES-SCOLIOSIS-MACROCEPHALY SYNDROME
466926MONDO:0014731
EXT2 Causal
26246518 30075207 30288735 30997052 35045016
ClinVar GWAS catalog Orphanet