- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35173)
- Epiphyseal stippling (HP:0010655): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:35173)
- Facial asymmetry (HP:0000324): An abnormal difference between the left and right sides of the face. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- 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:35173)
- Abnormal skull morphology (HP:0000929): An abnormality of the skull, the bony framework of the head which is comprised of the neurocranium (with eight cranial bones) and the viscerocranium (facial skeleton) that comprises fourteen facial bones with the mandible as its largest bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Erythroderma (HP:0001019): An inflammatory exfoliative dermatosis involving nearly all of the surface of the skin. Erythroderma develops suddenly. A patchy erythema may generalize and spread to affect most of the skin. Scaling may appear in 2-6 days and be accompanied by hot, red, dry skin, malaise, and fever. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Short stature (HP:0004322): A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Anomalous tracheal cartilage (HP:0004468): An abnormality of the C-shaped rings of hyaline cartilage, normally 16 to 20 in number, that occupy the anterior two-thirds of the circumference of the trachea (the posterior portion of the ring is completed by fibrous and smooth muscle tissue). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Anterior rib punctate calcifications (HP:0006619): Deposition of calcium salts in point-like foci within the anterior portion of one or more ribs. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Ichthyosis (HP:0008064): An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Erythematous plaque (HP:0025474): A plaque (a solid, raised, plateau-like (flat-topped) lesion greater than 1 cm in diameter) with a red or reddish color often associated with inflammation or irritation. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Scaling skin (HP:0040189): Refers to the loss of the outer layer of the epidermis in large, scale-like flakes. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Lower limb asymmetry (HP:0100559): A difference in length or diameter between the left and right leg. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Upper limb asymmetry (HP:0100560): Difference in length or size between the right and left arm. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- Abnormally ossified vertebrae (HP:0100569): An abnormality of the formation and mineralization of one or more vertebrae. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:35173)
- High palate (HP:0000218): Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Microcornea (HP:0000482): A congenital abnormality of the cornea in which the cornea and the anterior segment of the eye are smaller than normal. The horizontal diameter of the cornea does not reach 10 mm even in adulthood. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- 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:35173)
- Microphthalmia (HP:0000568): A developmental anomaly characterized by abnormal smallness of one or both eyes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Sparse eyelashes (HP:0000653): Decreased density/number of eyelashes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Abnormality of prenatal development or birth (HP:0001197): An abnormality of the fetus or the birth of the fetus, excluding structural abnormalities. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Flexion contracture (HP:0001371): A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Abnormal nail morphology (HP:0001597): Abnormal structure or appearance of the nail. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Neonatal hypoglycemia (HP:0001998). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Abnormal lung morphology (HP:0002088): Any structural anomaly of the lung. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Coarse hair (HP:0002208): Hair shafts are rough in texture. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Patchy alopecia (HP:0002232): Transient, non-scarring hair loss and preservation of the hair follicle located in in well-defined patches. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Kyphoscoliosis (HP:0002751): An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Hip dislocation (HP:0002827): Displacement of the femur from its normal location in the hip joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Patellar dislocation (HP:0002999): The kneecap normally is located within the groove termed trochlea on the distal femur and can slide up and down in it. Patellar dislocation occurs if the patella fully dislocates out of the groove. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Scarring alopecia of scalp (HP:0004552). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Neonatal epiphyseal stippling (HP:0005756): The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses during the neonatal period. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Hypoplastic cervical vertebrae (HP:0008434). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Neuropathic spinal arthropathy (HP:0008443): A progressive disorder of vertebral joint degeneration that occurs in the setting of any condition characterized by decreased afferent innervation, involving loss of deep pain and proprioceptive sensation in the vertebral column. Patients most commonly present with symptoms of lower back pain, sitting imbalance, progressive spinal deformity (usually kyphosis), and an audible clicking sound on changing postures. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Severe postnatal growth retardation (HP:0008850): Severely slow or limited growth after birth, being four standard deviations or more below age- and sex-related norms. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Abnormal hair pattern (HP:0010720): An abnormality of the distribution of hair growth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Sparse eyebrow (HP:0045075): Decreased density/number of eyebrow hairs. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:35173)
- Hydronephrosis (HP:0000126): Severe distention of the kidney with dilation of the renal pelvis and calices. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:35173)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:35173)
- Sensorineural hearing impairment (HP:0000407): A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:35173)
- 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:35173)
These phenotypes are associated with the disease X-linked dominant chondrodysplasia punctata (ORPHA:35173).