- Parietal bossing (HP:0000242): Parietal bossing is a marked prominence in the parietal region. Evidence: IEA. (OMIM:224300)
- Sclerotic scapulae (HP:0001474): Increased density of the bony tissue of the scapula. Evidence: TAS. (OMIM:224300)
- Flared metaphysis (HP:0003015): The presence of a splayed (i.e.,flared) metaphyseal segment of one or more long bones. Evidence: TAS. (OMIM:224300)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: TAS. (OMIM:224300)
- Delayed eruption of teeth (HP:0000684): Delayed tooth eruption, which can be defined as tooth eruption more than 2 SD beyond the mean eruption age. Evidence: TAS. (OMIM:224300)
- Delayed closure of the anterior fontanelle (HP:0001476): A delay in closure (ossification) of the anterior fontanelle, which generally undergoes closure around the 18th month of life. Evidence: TAS. (OMIM:224300)
- Broad femoral neck (HP:0006429): An abnormally wide femoral neck (which is the process of bone, connecting the femoral head with the femoral shaft). Evidence: TAS. (OMIM:224300)
- Disproportionate short stature (HP:0003498): A kind of short stature in which different regions of the body are shortened to differing extents. Evidence: TAS. (OMIM:224300)
- 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. (OMIM:224300)
- Clavicular sclerosis (HP:0100923): An increase in bone density within the clavicle. Evidence: TAS. (OMIM:224300)
- Osteopenia (HP:0000938): Osteopenia is a term to define bone density that is not normal but also not as low as osteoporosis. By definition from the World Health Organization osteopenia is defined by bone densitometry as a T score -1 to -2.5. Evidence: TAS. (OMIM:224300)
- Prominent forehead (HP:0011220): Forward prominence of the entire forehead, due to protrusion of the frontal bone. Evidence: TAS. (OMIM:224300)
- Blindness (HP:0000618): Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation. Evidence: TAS. (OMIM:224300)
- Hypoplastic vertebral bodies (HP:0008479). Evidence: TAS. (OMIM:224300)
- Short sternum (HP:0000879): Decreased inferosuperior length of the sternum. Evidence: TAS. (OMIM:224300)
- 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. (OMIM:224300)
- Increased susceptibility to fractures (HP:0002659): An abnormally increased tendency to fractures of bones caused by an abnormal reduction in bone strength that is generally associated with an increased risk of fracture. Evidence: IEA. (OMIM:224300)
- Narrow chest (HP:0000774): Reduced width of the chest from side to side, associated with a reduced distance from the sternal notch to the tip of the shoulder. Evidence: TAS. (OMIM:224300)
- Round face (HP:0000311): The facial appearance is more circular than usual as viewed from the front. Evidence: TAS. (OMIM:224300)
- Abducens palsy (HP:0006897): Malfunction of the abducens nerve as manifested by impairment of the ability of the affected eye to be moved outward. Patients who develop abducens nerve palsy often present with binocular horizontal diplopia, which is a double vision when looking at objects side by side. There will be a notable weakness of the ipsilateral lateral rectus muscle leading to a deficit in of eye abduction on the affected side. Some patients may present with a constant head turning movement to maintain binocular fusion and to lessen the degree of diplopia. Evidence: TAS. (OMIM:224300)
- Short ribs (HP:0000773): Reduced rib length. Evidence: TAS. (OMIM:224300)
- Oligodontia (HP:0000677): The absence of six or more teeth from the normal series by a failure to develop. Evidence: TAS. (OMIM:224300)
- 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. (OMIM:224300)
- Irregular vertebral endplates (HP:0003301): An irregular surface of the vertebral end plates, which are normally relatively smooth. Evidence: IEA. (OMIM:224300)
- Facial paralysis (HP:0007209): Complete loss of ability to move facial muscles innervated by the facial nerve (i.e., the seventh cranial nerve). Evidence: TAS. (OMIM:224300)
- Natal tooth (HP:0000695): A tooth present at birth or erupting within the first month of life. Evidence: TAS. (OMIM:224300)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: TAS. (OMIM:224300)
- Obstructive sleep apnea (HP:0002870): Obstructive Sleep Apnea is a condition characterized by the obstruction of the airway and pauses in breathing during sleep, which occur multiple times throughout the night. It is related to the relaxation of muscle tone that typically happens during sleep, leading to a partial collapse of the soft tissues in the airway and causing airflow obstruction. Evidence: TAS. (OMIM:224300)
- Sclerosis of skull base (HP:0002694): Increased bone density of the skull base without significant changes in bony contour. Evidence: TAS. (OMIM:224300)
- Developmental regression (HP:0002376): Loss of developmental skills, as manifested by loss of developmental milestones. Evidence: TAS. (OMIM:224300)
- Abnormal metaphyseal trabeculation (HP:0005089): An abnormality of the pattern of trabecula (small interconnecting rods of bone) in a metaphyseal region of bone. Evidence: TAS. (OMIM:224300)
- Increased intervertebral space (HP:0030320): An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disk space. Evidence: TAS. (OMIM:224300)
- Sclerosis of hand bone (HP:0004054): Osteosclerosis affecting one or more bones of the hand. Evidence: IEA. (OMIM:224300)
- Premature loss of teeth (HP:0006480): Exfoliation of a tooth more than 2 SD earlier than the normal age for the deciduous teeth and not related to traume or neglect. Exfoliation of a permanent tooth is per se abnormal. Evidence: TAS. (OMIM:224300)
- Progressive bowing of long bones (HP:0006383): Progressive bending or abnormal curvature of a long bone. Evidence: TAS. (OMIM:224300)
- Platyspondyly (HP:0000926): A flattened vertebral body shape with reduced distance between the vertebral endplates. Evidence: TAS. (OMIM:224300)
- Autosomal recessive inheritance (HP:0000007): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Evidence: TAS. (OMIM:224300)
- Optic atrophy (HP:0000648): Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy. Evidence: TAS. (OMIM:224300)
- Narrow iliac wing (HP:0002868): Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally). Evidence: TAS. (OMIM:224300)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. (OMIM:224300)
- Absent paranasal sinuses (HP:0002689): Aplasia of the paranasal sinuses. Evidence: TAS. (OMIM:224300)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: IEA. (OMIM:224300)
- Short diaphyses (HP:0000941). Evidence: TAS. (OMIM:224300)
- Absent frontal sinuses (HP:0002688): Aplasia of frontal sinus. Evidence: TAS. (OMIM:224300)
- Broad ribs (HP:0000885): Increased width of ribs. Evidence: TAS. (OMIM:224300)
- Diaphyseal undertubulation (HP:0005019): Tubulation refers to the size and shape of tubular bones. In children and adolescents, the modeling process regulates normal bone growth. Final shaft (tube) diameter depends on appositional bone growth and the equilibrium between periosteal and endosteal bone resorption and formation. Undertubulation refers to a broad, widened form of the shafts (diaphyses) of long bones. Evidence: TAS. (OMIM:224300)
These phenotypes are associated with the disease dysosteosclerosis (OMIM:224300).