- Linear nevus sebaceous (HP:0010817): A type of nevus sebaceous with a linear form, raised borders and yellowish color. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2874)
- Nevus spilus (HP:0025510): A tan, regularly bordered patch with darker macules within the lesion. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2874)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2874)
- Melanocytic nevus (HP:0000995): A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2874)
- Basal cell carcinoma (HP:0002671): The presence of a basal cell carcinoma of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2874)
- Rhabdomyosarcoma (HP:0002859). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2874)
- Hypophosphatemic rickets (HP:0004912). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2874)
- 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:2874)
- Hemiatrophy (HP:0100556): Undergrowth of the limbs that affects only one side. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2874)
- 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:2874)
- Glaucoma (HP:0000501): Glaucoma refers loss of retinal ganglion cells in a characteristic pattern of optic neuropathy usually associated with increased intraocular pressure. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Coloboma (HP:0000589): A developmental defect characterized by a cleft of some portion of the eye or ocular adnexa. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- 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:2874)
- Hyperhidrosis (HP:0000975): Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Lymphedema (HP:0001004): Localized fluid retention and tissue swelling caused by a compromised lymphatic system. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- 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: Very rare (HP:0040284). (ORPHA:2874)
- Hemiparesis (HP:0001269): Loss of strength in the arm, leg, and sometimes face on one side of the body. Hemiplegia refers to a complete loss of strength, whereas hemiparesis refers to an incomplete loss of strength. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Hyperreflexia (HP:0001347): Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Hemihypertrophy (HP:0001528): Overgrowth of only one side of the body. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Spina bifida (HP:0002414): Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Pheochromocytoma (HP:0002666): Pheochromocytomas (also known as chromaffin tumors) produce, store, and secrete catecholamines. Pheochromocytomas usually originate from the adrenal medulla but may also develop from chromaffin cells in or about sympathetic ganglia. A common symptom of pheochromocytoma is hypertension owing to release of catecholamines. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Arrhythmia (HP:0011675): Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Cutaneous melanoma (HP:0012056): The presence of a melanoma of the skin. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Unilateral renal hypoplasia (HP:0012583): One sided hypoplasia of the kidney. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Renal transitional cell carcinoma (HP:0030409): A malignant tumor that arises from the transitional (urothelial) epithelial cells lining the urinary tract from the renal calyces to the ureteral orifice. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Raynaud phenomenon (HP:0030880). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Arachnoid cyst (HP:0100702): An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Blue nevus (HP:0100814): A solitary, bluish, smooth surfaced macule, papule or plaque that is generally round or oval in shape. The histopathology of blue nevi varies by subtype, but general characteristics include a vertical wedge or bulbous shaped proliferation of spindle cells, dendritic melanocytes, and melanophages into a sclerotic dermis or subcutis. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
- Hyperesthesia (HP:0100963): Increased sensitivity to stimulation, excluding the special senses, which may refer to various modes of cutaneous sensibility including touch and thermal sensation without pain, as well as to pain. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:2874)
These phenotypes are associated with the disease Phakomatosis pigmentokeratotica (ORPHA:2874).