- 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:557003)
- Abnormality of mucopolysaccharide metabolism (HP:0011020): An abnormality of the metabolism of mucopolysaccharide. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
- 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: Frequent (HP:0040282). (ORPHA:557003)
- Retrognathia (HP:0000278): An abnormality in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Epicanthus (HP:0000286): A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- 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: Occasional (HP:0040283). (ORPHA:557003)
- Wide nasal bridge (HP:0000431): Increased breadth of the nasal bridge (and with it, the nasal root). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Microdontia (HP:0000691): Decreased size of the teeth, which can be defined as a mesiodistal tooth diameter (width) more than 2 SD below mean. Alternatively, an apparently decreased maximum width of tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Mutism (HP:0002300): Complete lack of speech or verbal communication in a person despite attempts to engage in conversation. Mutism as a phenomena assumes the individual has previous capacity for speech and in the pediatric population it assumes that the person is past the age of typical language development. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Delayed skeletal maturation (HP:0002750): A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Hypocalcemia (HP:0002901): The concentration of calcium in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Thoracic kyphosis (HP:0002942): Over curvature of the thoracic region, leading to a round back or if sever to a hump. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Hypoplasia of the capital femoral epiphysis (HP:0003090): Underdevelopment of the proximal epiphysis of the femur. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Hyperlordosis (HP:0003307): Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Dysplastic corpus callosum (HP:0006989): Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Focal white matter lesions (HP:0007042). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Thick nasal alae (HP:0009928): Increase in bulk of the ala nasi. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Abnormal thalamus morphology (HP:0010663): An abnormality of the thalamus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Broad columella (HP:0010761): Increased width of the columella. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Metaphyseal dysplasia (HP:0100255): The presence of dysplastic regions in metaphyseal regions. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:557003)
- Nephrocalcinosis (HP:0000121): Nephrocalcinosis is the deposition of calcium salts in renal parenchyma. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
- Abnormality of the dentition (HP:0000164): Any abnormality of the teeth. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
- Coarse facial features (HP:0000280): Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
- 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: Frequent (HP:0040282). (ORPHA:557003)
- Developmental cataract (HP:0000519): A cataract that occurs congenitally as the result of a developmental defect, in contrast to the majority of cataracts that occur in adulthood as the result of degenerative changes of the lens. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
- Abnormality of the frontal hairline (HP:0000599): An anomaly in the placement or shape of the hairline (trichion) on the forehead, that is, the border between skin on the forehead that has head hair and that does not. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
- Stroke (HP:0001297): Sudden impairment of blood flow to a part of the brain due to occlusion or rupture of an artery to the brain. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:557003)
These phenotypes are associated with the disease Oculoskeletodental syndrome (ORPHA:557003).