Phenotypes associated with the disease FRAXF syndrome (ORPHA:100974):
- Folate-dependent fragile site at Xq28 (HP:0003564): The presence of a folate sensitive fragile site at chromosome Xq28. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:100974)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:100974)
- Phenotypic abnormality (HP:0000118): A phenotypic abnormality. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:100974)