X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome

Disease Term Disease ID Gene Symbol Classification References Source
X-LINKED COLOBOMATOUS MICROPHTHALMIA, MICROCEPHALY, INTELLECTUAL DISABILITY, SHORT STATURE SYNDROME
C4749694
HMGB3 Unknown — Disgenet
X-LINKED COLOBOMATOUS MICROPHTHALMIA-MICROCEPHALY-INTELLECTUAL DISABILITY-SHORT STATURE SYNDROME
MONDO:0010485
HMGB3 Unknown
15358624 24993872
ClinVar GWAS catalog