Phenotype Annotations Click to see Annotation Detail View
Manual Human Phenotype Annotations - RGDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Convex nasal ridge | | IAGP | | 13450906 | DNA:mutations:splice junction:c.383+1G>C and c.4005-9A>G(human) | RGD | | Delayed skeletal maturation | | IAGP | | 13450906 | DNA:mutations:splice junction:c.383+1G>C and c.4005-9A>G(human) | RGD | | High, narrow palate | | IAGP | | 13450906 | DNA:mutations:splice junction:c.383+1G>C and c.4005-9A>G(human) | RGD | | Intellectual disability | | IAGP | | 13450906 | DNA:mutations:splice junction:c.383+1G>C and c.4005-9A>G(human) | RGD | | Micrognathia | | IAGP | | 13450906 | DNA:mutations:splice junction:c.383+1G>C and c.4005-9A>G(human) | RGD | | Sloping forehead | | IAGP | | 13450906 | DNA:mutations:splice junction:c.383+1G>C and c.4005-9A>G(human) | RGD | | |