- Abnormality of the genital system (HP:0000078): An abnormality of the genital system. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:1809)
- Protruding ear (HP:0000411): Angle formed by the plane of the ear and the mastoid bone greater than the 97th centile for age (objective); or, outer edge of the helix more than 2 cm from the mastoid at the point of maximum distance (objective). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- Absent eyelashes (HP:0000561): Lack of eyelashes. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- Irregular menstruation (HP:0000858): Abnormally high variation in the amount of time between periods. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1809)
- Abnormal fingernail morphology (HP:0001231): An abnormality of the fingernails. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- 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: Very frequent (HP:0040281). (ORPHA:1809)
- Nail dysplasia (HP:0002164): The presence of developmental dysplasia of the nail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- Sparse scalp hair (HP:0002209): Decreased number of hairs per unit area of skin of the scalp. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- Absent eyebrow (HP:0002223): Absence of the eyebrow. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- Sparse body hair (HP:0002231): Sparseness of the body hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- Trichodysplasia (HP:0002552): Developmental dysplasia of the hair. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- Supernumerary nipple (HP:0002558): Presence of more than two nipples. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1809)
- Abnormal dermatoglyphics (HP:0007477): An abnormality of dermatoglyphs (fingerprints), which are present on fingers, palms, toes, and soles. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
- Follicular hyperkeratosis (HP:0007502): A skin condition characterized by excessive development of keratin in hair follicles, resulting in rough, cone-shaped, elevated papules resulting from closure of hair follicles with a white plug of sebum. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1809)
- Multiple cafe-au-lait spots (HP:0007565): The presence of six or more cafe-au-lait spots. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:1809)
- Abnormal toenail morphology (HP:0008388): An anomaly of the toenail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:1809)
These phenotypes are associated with the disease Hidrotic ectodermal dysplasia, Halal type (ORPHA:1809).