- Cryptorchidism (HP:0000028): Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1123)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1123)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1123)
- Caudal appendage (HP:0002825): The presence of a tail-like skin appendage located adjacent to the sacrum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1123)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1123)
- Infantile sensorineural hearing impairment (HP:0008610): A form of sensorineural hearing impairment with infantile onset. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1123)
- Abnormal digit morphology (HP:0011297): A morphological abnormality of a digit, i.e., of a finger or toe. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1123)
These phenotypes are associated with the disease Caudal appendage-deafness syndrome (ORPHA:1123).