Phenotype Annotations Click to see Annotation Detail View
Manual Human Phenotype Annotations - RGDTerm | Qualifier | Evidence | With | Reference | Notes | Source | Original Reference(s) | Anteverted nares | | IAGP | | 13442490 | DNA:point muation:exon:3868G>A (p.R1272Q) (human) | RGD | | Hypertelorism | | IAGP | | 13442490 | DNA:point muation:exon:3868G>A (p.R1272Q) (human) | RGD | | Intellectual disability, severe | | IAGP | | 13442490 | DNA:point muation:exon:3868G>A (p.R1272Q) (human) | RGD | | Language impairment | | IAGP | | 13442490 | DNA:point muation:exon:3868G>A (p.R1272Q) (human) | RGD | | Large forehead | | IAGP | | 13442490 | DNA:point muation:exon:3868G>A (p.R1272Q) (human) | RGD | | Motor stereotypy | | IAGP | | 13442490 | DNA:point muation:exon:3868G>A (p.R1272Q) (human) | RGD | | |