Phenotype Annotations Click to see Annotation Detail View
Manual Human Phenotype Annotations - RGDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Intellectual disability | | IAGP | | 13450905 | DNA:nonsense mutation:exon:243T>A(p.S81X)(human) | RGD | | Sloping forehead | | IAGP | | 13450905 | DNA:nonsense mutation:exon:243T>A(p.S81X)(human) | RGD | | |