Craniofacial dysmorphism skeletal anomalies intellectual disability syndrome

Disease Term Disease ID Gene Symbol Classification References Source
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT 1
MONDO:0800436
TMCO1 Causal
20018682 36708876 36451910 36186440 31102500 30556256 29682451 24424126 24194475 23320496
ClinVar Orphanet
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 1
C5677021213980
RAB5IF Unknown — Disgenet
TGIF2-RAB5IF Unknown — Disgenet
TMCO1 Unknown — Disgenet HPO
CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2
616994C5676895MONDO:0859567
RAB5IF Causal — ClinVar Disgenet GenCC HPO
TGIF2-RAB5IF Unknown — Disgenet