- Wide mouth (HP:0000154): Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85290)
- Brachycephaly (HP:0000248): An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85290)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85290)
- Square face (HP:0000321): Facial contours, as viewed from the front, show a broad upper face/cranium and lower face/mandible, creating a square appearance. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85290)
- 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: Frequent (HP:0040282). (ORPHA:85290)
- Growth delay (HP:0001510): A deficiency or slowing down of growth pre- and postnatally. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85290)
- Mutism (HP:0002300): Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85290)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85290)
- Abnormal position of hair whorl (HP:0010814): Hair growth from a single point on the scalp in any location other than lateral to the midline and close to the vertex of the skull. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85290)
- Severe intellectual disability (HP:0010864): Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85290)
- Thick vermilion border (HP:0012471): Increased width of the skin of vermilion border region of upper lip. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:85290)
- Inguinal hernia (HP:0000023): Protrusion of the contents of the abdominal cavity through the inguinal canal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85290)
- Hydrocele testis (HP:0000034): Accumulation of clear fluid in the between the layers of membrane (tunica vaginalis) surrounding the testis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85290)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85290)
- Lateral ventricle dilatation (HP:0006956). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85290)
- Delayed myelination (HP:0012448): Delayed myelination. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:85290)
These phenotypes are associated with the disease X-linked intellectual disability, Wilson type (ORPHA:85290).