- Absent fingernail (HP:0001817): Absence of a fingernail. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79499)
- Severe sensorineural hearing impairment (HP:0008625): A severe form of sensorineural hearing impairment. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79499)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79499)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79499)
- Triphalangeal thumb (HP:0001199): A thumb with three phalanges in a single, proximo-distal axis. Thus, this term applies if the thumb has an accessory phalanx, leading to a digit like appearance of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79499)
- Absent toenail (HP:0001802): Congenital absence of the toenail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79499)
- Aplasia/Hypoplasia of the nails (HP:0008386): Aplasia or developmental hypoplasia of the nail. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79499)
- Dolichocephaly (HP:0000268): An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- High forehead (HP:0000348): An abnormally increased height of the forehead. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- Aplasia cutis congenita (HP:0001057): A developmental defect resulting in the congenital absence of skin in multiple or solitary non-inflammatory, well-demarcated, oval or circular ulcers with a diameter of about 1 to 2 cm. Aplasia cutis congenita most commonly occurs on the scalp, but may present in the face, trunk, or limbs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- 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: Occasional (HP:0040283). (ORPHA:79499)
- Seizure (HP:0001250): A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- Hypoplastic toenails (HP:0001800): Underdevelopment of the toenail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- Poor speech (HP:0002465). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- Short thumb (HP:0009778): Hypoplasia (congenital reduction in size) of the thumb. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- Absent thumbnail (HP:0012554): Absence of thumb nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- Absent fifth fingernail (HP:0200104): Absence of nail of little finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
- Small, conical teeth (HP:0200141). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79499)
These phenotypes are associated with the disease Autosomal dominant deafness-onychodystrophy syndrome (ORPHA:79499).