- Polycystic ovaries (HP:0000147). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2969)
- 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: Frequent (HP:0040282). (ORPHA:2969)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2969)
- 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:2969)
- Mandibular prognathia (HP:0000303): Abnormal prominence of the chin related to increased length of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2969)
- Anteverted nares (HP:0000463): Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2969)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2969)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2969)
- Retinal detachment (HP:0000541): Separation of the inner layers of the retina (neural retina) from the pigment epithelium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2969)
- Myopia (HP:0000545): An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2969)
- Abnormal pupil morphology (HP:0000615): An abnormality of the pupil. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2969)
- Abnormality of the parathyroid gland (HP:0000828): An abnormality of the parathyroid gland. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2969)
- 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 frequent (HP:0040281). (ORPHA:2969)
- Subcutaneous lipoma (HP:0001031): The presence of subcutaneous lipoma. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2969)
- Heterochromia iridis (HP:0001100): Heterochromia iridis is a difference in the color of the iris in the two eyes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2969)
- Limbal dermoid (HP:0001140): A benign tumor typically found at the junction of the cornea and sclera (limbal epibullar dermoid). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2969)
- 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: Very frequent (HP:0040281). (ORPHA:2969)
- Communicating hydrocephalus (HP:0001334): A form of hydrocephalus in which there is no visible obstruction to the flow of the cerebrospinal fluid between the ventricles and subarachnoid space. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2969)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2969)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2969)
- Genu recurvatum (HP:0002816): An abnormally increased extension of the knee joint, so that the knee can bend backwards. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2969)
- Venous insufficiency (HP:0005293). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2969)
- Irregular hyperpigmentation (HP:0007400). Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2969)
- Shagreen patch (HP:0009721): A plaque representing a connective-tissue nevus. Connective tissue naevi are uncommon skin lesions that occur when the deeper layers of the skin do not develop correctly or the components of these layers occur in the wrong proportion. Shagreen patches are oval-shaped and nevoid, skin-colored or occasionally pigmented, smooth or crinkled. The word shagreen refers to a type of roughened untanned leather. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2969)
- Thymus hyperplasia (HP:0010516): Enlargement of the thymus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2969)
- Open bite (HP:0010807): Visible space between the dental arches in occlusion. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2969)
- Epidermal nevus (HP:0010816): Epidermal naevi are due to an overgrowth of the epidermis and may be present at birth (50%) or develop during childhood. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2969)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2969)
- Bronchogenic cyst (HP:0100730): A rare congenital cystic lesion of the lungs in the mediastinum. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:2969)
- Hyperostosis (HP:0100774): Excessive growth or abnormal thickening of bone tissue. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:2969)
- Exostoses (HP:0100777): An exostosis is a benign growth the projects outward from the bone surface. It is capped by cartilage, and arises from a bone that develops from cartilage. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:2969)
These phenotypes are associated with the disease Proteus-like syndrome (ORPHA:2969).