- Abnormal skin pigmentation (HP:0001000): An abnormality of the pigmentation of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:626)
- Nevus (HP:0003764): A nevus is a type of hamartoma that is a circumscribed stable malformation of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:626)
- Congenital giant melanocytic nevus (HP:0005600): The giant congenital nevus is greater than 8 cm in size, pigmented and often hairy. A giant congenital nevus is smaller in infants and children, but it usually continues to grow with the child. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:626)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:626)
- Anhidrosis (HP:0000970): Inability to sweat. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:626)
- Poor wound healing (HP:0001058): A reduced ability to heal cutaneous wounds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:626)
- Hydrocephalus (HP:0000238): Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- Atypical behavior (HP:0000708): Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- Pruritus (HP:0000989): Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally increased disposition to experience pruritus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- Hypertrichosis (HP:0000998): Hypertrichosis is increased hair growth that is abnormal in quantity or location. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- Hypopigmented skin patches (HP:0001053). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- 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:626)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- Spinal cord compression (HP:0002176): External mechanical compression of the spinal cord. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- Headache (HP:0002315): Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- Increased intracranial pressure (HP:0002516): An increase of the pressure inside the cranium (skull) and thereby in the brain tissue and cerebrospinal fluid. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- Cutaneous melanoma (HP:0012056): The presence of a melanoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- Neurodevelopmental delay (HP:0012758): Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:626)
- 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: Very rare (HP:0040284). (ORPHA:626)
- Hypophosphatemic rickets (HP:0004912). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:626)
- Premature thelarche (HP:0010314): Premature development of the breasts. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:626)
These phenotypes are associated with the disease Large/giant congenital melanocytic nevus (ORPHA:626).