Intellectual developmental disorder speech dysmorphic
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES | TNPO2 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND DYSMORPHIC FACIES | DDX6 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY AND DYSMORPHIC FACIES | SOX4 | Unknown | — | HPO | |
| INTELLECTUAL DISABILITY, EXPRESSIVE APHASIA, FACIAL DYSMORPHISM SYNDROME | SETBP1 | Unknown | — | Disgenet | |
| INTELLECTUAL DISABILITY-SPARSE HAIR-BRACHYDACTYLY SYNDROME | SMARCA2 | Unknown | ClinGen GWAS catalog |