- Decreased body weight (HP:0004325): Abnormally low body weight. Evidence: PCS. Frequency: 3/3. (PMID:25261934)
- 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: PCS. Frequency: 1/3. (PMID:25261934)
- Sparse hair (HP:0008070): Reduced density of hairs. Evidence: PCS. Frequency: 0/3. (PMID:25261934)
- Osteoporosis (HP:0000939): Osteoporosis is a systemic skeletal disease characterized by low bone density and microarchitectural deterioration of bone tissue with a consequent increase in bone fragility. According to the WHO criteria, osteoporosis is defined as a BMD that lies 2.5 standard deviations or more below the average value for young healthy adults (a T-score below -2.5 SD). Evidence: PCS. Frequency: 0/3. (PMID:25261934)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: PCS. Frequency: 1/3. (PMID:25261934)
- Single transverse palmar crease (HP:0000954): The distal and proximal transverse palmar creases are merged into a single transverse palmar crease. Evidence: PCS. Frequency: 3/3. (PMID:25261934)
- Bulbous nose (HP:0000414): Increased volume and globular shape of the anteroinferior aspect of the nose. Evidence: TAS. (OMIM:616200)
- Lipodystrophy (HP:0009125): Degenerative changes of the fat tissue. Evidence: PCS. Frequency: 2/2. (PMID:25261934)
- Clinodactyly (HP:0030084): An angulation of a digit at an interphalangeal joint in the plane of the palm (finger) or sole (toe). Evidence: IEA. (OMIM:616200)
- Posterior subcapsular cataract (HP:0007787): A type of cataract affecting the posterior pole of lens immediately adjacent to ('beneath') the Lens capsule. Evidence: TAS. (OMIM:616200)
- Premature graying of hair (HP:0002216): Development of gray hair at a younger than normal age. Evidence: PCS. Frequency: 1/3. (PMID:25261934)
- Down-sloping shoulders (HP:0200021): Low set, steeply sloping shoulders. Evidence: TAS. (OMIM:616200)
- Pes planus (HP:0001763): A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced. Evidence: TAS. (OMIM:616200)
- Hypogonadism (HP:0000135): A decreased functionality of the gonad. Evidence: PCS. Frequency: 0/3. (PMID:25261934)
- Hepatocellular carcinoma (HP:0001402): A kind of neoplasm of the liver that originates in hepatocytes and presents macroscopically as a soft and hemorrhagic tan mass in the liver. Evidence: PCS. Frequency: 3/3. (PMID:25261934)
- Skeletal muscle atrophy (HP:0003202): The presence of skeletal muscular atrophy (which is also known as amyotrophy). Evidence: PCS. Frequency: 2/2. (PMID:25261934)
- 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: PCS. Frequency: 3/3. (PMID:25261934)
- Pectus excavatum (HP:0000767): A defect of the chest wall characterized by a depression of the sternum, giving the chest ("pectus") a caved-in ("excavatum") appearance. Evidence: TAS. (OMIM:616200)
- Prominent nasal bridge (HP:0000426): Anterior positioning of the nasal root in comparison to the usual positioning for age. Evidence: TAS. (OMIM:616200)
- 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: PCS. (PMID:25261934)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. (OMIM:616200)
- Elbow flexion contracture (HP:0002987): An elbow contracture that limits the ability of the elbow joint to be extended (straightened), meaning that the elbow is fixed in an flexed (bent) position. Evidence: TAS. (OMIM:616200)
- Thoracic kyphoscoliosis (HP:0005659). Evidence: TAS. (OMIM:616200)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: PCS. Frequency: 3/3. (PMID:25261934)
- Triangular face (HP:0000325): Facial contour, as viewed from the front, triangular in shape, with breadth at the temples and tapering to a narrow chin. Evidence: PCS. Frequency: 3/3. (PMID:25261934)
These phenotypes are associated with the disease progeroid features-hepatocellular carcinoma predisposition syndrome (OMIM:616200).