Intellectual developmental disorder dysmorphic cardiac short stature

Disease Term Disease ID Gene Symbol Classification References Source
INTELLECTUAL DISABILITY, CARDIAC ANOMALIES, SHORT STATURE, JOINT LAXITY SYNDROME
C5568572
PUF60 Unknown — Disgenet
INTELLECTUAL DISABILITY-CARDIAC ANOMALIES-SHORT STATURE-JOINT LAXITY SYNDROME
508498
PUF60 Causal
27804958 28327570
Orphanet