Intellectual developmental disorder seizures hypotonia skeletal

Disease Term Disease ID Gene Symbol Classification References Source
INTELLECTUAL DISABILITY, SEIZURES, HYPOTONIA, OPHTHALMOLOGIC, SKELETAL ANOMALIES SYNDROME
C4749459
PIGT Unknown — Disgenet
INTELLECTUAL DISABILITY-SEVERE SPEECH DELAY-MILD DYSMORPHISM SYNDROME
MONDO:0013352
FOXP1 Causal
12687690 20950788 25266127 26647308 28735298
ClinGen ClinVar GWAS catalog