Intellectual disability with craniofacial anomalies and cardiac defects

Disease Term Disease ID Gene Symbol Classification References Source
AUTOSOMAL DOMINANT INTELLECTUAL DISABILITY, CRANIOFACIAL ANOMALIES, CARDIAC DEFECTS SYNDROME
C4225396
KAT6A Unknown — Disgenet
AUTOSOMAL DOMINANT INTELLECTUAL DISABILITY, CRANIOFACIAL DYSMORPHISM, MACROCEPHALY, HYPOTONIA SYNDROME DUE TO H1.4 LINKER HISTONE, CLUSTER MEMBER MUTATION
C4479637
H1-4 Unknown — Disgenet
AUTOSOMAL DOMINANT INTELLECTUAL DISABILITY-CRANIOFACIAL ANOMALIES-CARDIAC DEFECTS SYNDROME
MONDO:0014558ORPHA457193
KAT6A Causal
25728775 30245513 32041641 30775047 29899504 31754438 27133397 25728777 35892268 28649320 30105118 33386251 33552646 33770237 34039162 34295791 34439586 34748993 34930245 36070007 36453964 36573038 36672906 36880793 37269490 38143
ClinVar Disgenet