- Curly hair (HP:0002212). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79414)
- Fine hair (HP:0002213): Hair that is fine or thin to the touch. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79414)
- Patchy hypopigmentation of hair (HP:0011365): Reduced pigmentation of hair in patches. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79414)
- Woolly scalp hair (HP:0040149): The presence of wooly hair on the scalp. The term wooly hair refers to an abnormal variant of hair that is fine, with tightly coiled curls, and often hypopigmented. Optical microscopy may reveal the presence of tight spirals and a clear diameter reduction as compared with normal hair. Electron microscopy may show flat, oval hair shafts with reduced transversal diameter. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79414)
- Congenital posterior occipital alopecia (HP:0007534): Loss of hair in the occipital region of the scalp with congenital onset. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79414)
- Verrucous epidermal nevus (HP:0034275): A type of epidermal nevus (which represent Blaschkoid hamartomas of the skin that result from mosaic post-zygotic mutations) that appears as skin-colored-to-brown, sharply demarcated, papillomatous papules that coalesce into plaques. The majority of these nevi are either present at birth or occur within the first year of life. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79414)
- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79414)
- Brachydactyly (HP:0001156): Digits that appear disproportionately short compared to the hand/foot. The word brachydactyly is used here to describe a series distinct patterns of shortened digits (brachydactyly types A-E). This is the sense used here. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79414)
- Widely-spaced incisors (HP:0006304). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79414)
- Persistent pupillary membrane (HP:0009917): The presence of remnants of a fetal membrane that persist as strands of tissue crossing the pupil. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79414)
- Enlarged vestibular aqueduct (HP:0011387): Increased size of the vestibular aqueduct. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79414)
- Precocious puberty (HP:0000826): The onset of secondary sexual characteristics before a normal age. Although it is difficult to define normal age ranges because of the marked variation with which puberty begins in normal children, precocious puberty can be defined as the onset of puberty before the age of 8 years in girls or 9 years in boys. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79414)
These phenotypes are associated with the disease Woolly hair nevus (ORPHA:79414).