Phenotypes associated with the disease X-linked intellectual disability-macrocephaly-macroorchidism syndrome (ORPHA:85320):
- Macroorchidism (HP:0000053): The presence of abnormally large testes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85320)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85320)
- Moderate intellectual disability (HP:0002342): Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:85320)