- Severe short stature (HP:0003510): A severe degree of short stature, more than -4 SD from the mean corrected for age and sex. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Premature ovarian insufficiency (HP:0008209): Amenorrhea due to loss of ovarian function before the age of 40. Primary ovarian insuficiency (POI) is a state of female hypergonadotropic hypogonadism. It can manifest as primary amenorrhea with onset before menarche or secondary amenorrhea. Evidence: PCS. Frequency: 1/1. (PMID:29105242)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. (OMIM:610965)
- Hearing impairment (HP:0000365): A decreased magnitude of the sensory perception of sound. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Defective DNA repair after ultraviolet radiation damage (HP:0003079). Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Renal insufficiency (HP:0000083): A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: PCS. Frequency: 1/1. (PMID:29105242)
- Dry skin (HP:0000958): Skin characterized by the lack of natural or normal moisture. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Enamel hypoplasia (HP:0006297): Developmental hypoplasia of the dental enamel. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- 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: PCS. Frequency: 1/1. (PMID:29105242)
- Absence of subcutaneous fat (HP:0007485): Lack of subcutaneous adipose tissue. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Ventriculomegaly (HP:0002119): An increase in size of the ventricular system of the brain. Evidence: PCS. Frequency: 1/1. (PMID:29105242)
- Corneal scarring (HP:0000559). Evidence: PCS. Frequency: 1/1. (PMID:29105242)
- Abnormally high-pitched voice (HP:0001620): A persistent (minutes to hours) abnormal increase in the pitch (frequency) of the voice for the context or social situation or significantly different from baseline of the individual. Evidence: PCS. Frequency: 1/1. (PMID:29105242)
- Elevated circulating hepatic transaminase concentration (HP:0002910): Elevations of the levels of SGOT and SGPT in the serum. SGOT (serum glutamic oxaloacetic transaminase) and SGPT (serum glutamic pyruvic transaminase) are transaminases primarily found in the liver and heart and are released into the bloodstream as the result of liver or heart damage. SGOT and SGPT are used clinically mainly as markers of liver damage. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Attenuation of retinal blood vessels (HP:0007843): Narrowing of the retinal blood vessels, both arterioles and venules. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Prominent supraorbital ridges (HP:0000336): Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones. Evidence: PCS. Frequency: 2/2. (PMID:29105242;PMID:17183314)
- Incoordination (HP:0002311): A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking. Evidence: PCS. Frequency: 1/1. (PMID:29105242)
- Narrow face (HP:0000275): Bizygomatic (upper face) and bigonial (lower face) width are both more than 2 standard deviations below the mean (objective); or, an apparent reduction in the width of the upper and lower face (subjective). Evidence: PCS. Frequency: 1/1. (PMID:29105242)
- Microcephaly (HP:0000252): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 2/2. (PMID:29105242;PMID:17183314)
- Scoliosis (HP:0002650): The presence of an abnormal lateral curvature of the spine. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Dermal atrophy (HP:0004334): Partial or complete wasting (atrophy) of the skin. Evidence: PCS. Frequency: 1/1. (PMID:29105242)
- Cutaneous photosensitivity (HP:0000992): An increased sensitivity of the skin to light. Photosensitivity may result in a rash upon exposure to the sun (which is known as photodermatosis). Photosensitivity can be diagnosed by phototests in which light is shone on small areas of skin. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Pes cavus (HP:0001761): An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight). Evidence: PCS. Frequency: 1/1. (PMID:29105242)
- Ascites (HP:0001541): Accumulation of fluid in the peritoneal cavity (between the layers of the peritoneum that lines the abdomen). Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Deeply set eye (HP:0000490): An eye that is more deeply recessed into the plane of the face than is typical. Evidence: PCS. Frequency: 2/2. (PMID:29105242)
- Proteinuria (HP:0000093): Increased levels of protein in the urine. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Death in adolescence (HP:0011421): Death during adolescence, the period between childhood and adulthood (roughly between the ages of 10 and 16 years). Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- 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: PCS. Frequency: 1/1. (PMID:29105242)
- Prematurely aged appearance (HP:0007495). Evidence: PCS. Frequency: 2/2. (PMID:29105242;PMID:17183314)
- Hypertension (HP:0000822): The presence of chronic increased pressure in the systemic arterial system. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- 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:17183314)
- Visual impairment (HP:0000505): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- 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: PCS. Frequency: 1/1. (PMID:17183314)
- Convex nasal ridge (HP:0000444): Nasal ridge curving anteriorly to an imaginary line that connects the nasal root and tip. The nose appears often also prominent, and the columella low. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
- Cachexia (HP:0004326): Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. Evidence: PCS. Frequency: 1/1. (PMID:17183314)
These phenotypes are associated with the disease XFE progeroid syndrome (OMIM:610965).