- Failure to thrive in infancy (HP:0001531, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 8/14. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:27019227)
- Failure to thrive in infancy (HP:0001531, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 2/2. (PMID:15804299)
- Cutaneous amyloidosis (HP:0012309, a Human Phenotype Ontology term): The presence of amyloid deposition in the superficial dermis. Evidence: PCS. (PMID:27019227)
- Colitis (HP:0002583, a Human Phenotype Ontology term): Colitis refers to an inflammation of the colon and is often used to describe an inflammation of the large intestine (colon, cecum and rectum). Colitides may be acute and self-limited or chronic, and broadly fit into the category of digestive diseases. Evidence: PCS. Frequency: 9/14. (PMID:27019227)
- Urethral stricture (HP:0012227, a Human Phenotype Ontology term): Narrowing of the urethra associated with inflammation or scar tissue. Evidence: PCS. Frequency: 5/14. (PMID:27019227)
- Reduced circulating interferon gamma concentration (HP:0033253, a Human Phenotype Ontology term): A reduction in the concentration of interferon gamma measured in the blood circulation. Evidence: PCS. (PMID:27019227)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/2. (PMID:15804299)
- Increased circulating interleukin 8 concentration (HP:0033178, a Human Phenotype Ontology term): An increased concentration of interleukin-8 in the circulation. Evidence: PCS. (PMID:27019227)
- Photophobia (HP:0000613, a Human Phenotype Ontology term): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 12/12. (PMID:15804299;PMID:2705473)
- Corneal scarring (HP:0000559, a Human Phenotype Ontology term). Evidence: PCS. Frequency: 7/14. (PMID:27019227)
- Recurrent pneumonia (HP:0006532, a Human Phenotype Ontology term): An increased susceptibility to pneumonia as manifested by a history of recurrent episodes of pneumonia. Evidence: PCS. Frequency: 12/12. (PMID:27019227;PMID:15804299)
- Reticular hyperpigmentation (HP:0007588, a Human Phenotype Ontology term): Increased pigmentation of the skin with a netlike (reticular) pattern. Evidence: PCS. Frequency: 16/16. (PMID:27019227;PMID:15804299)
- Frontal upsweep of hair (HP:0002236, a Human Phenotype Ontology term): Upward and/or sideward growth of anterior hair. Evidence: PCS. (PMID:27019227)
- Frontal upsweep of hair (HP:0002236, a Human Phenotype Ontology term): Upward and/or sideward growth of anterior hair. Evidence: PCS. Frequency: 2/2. (PMID:15804299)
- Intellectual disability (HP:0001249, a Human Phenotype Ontology term): 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: PCS. Frequency: 2/14. (PMID:2705473)
- Visual loss (HP:0000572, a Human Phenotype Ontology term): Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term reduced visual acuity should be used (or a subclass of that). Evidence: PCS. (PMID:2705473)
- Bronchiectasis (HP:0002110, a Human Phenotype Ontology term): Persistent abnormal dilatation of the bronchi owing to localized and irreversible destruction and widening of the large airways. Evidence: PCS. Frequency: 13/14. (PMID:27019227)
- Global developmental delay (HP:0001263, a Human Phenotype Ontology term): A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age. Evidence: PCS. Frequency: 2/14. (PMID:27019227)
- Broad eyebrow (HP:0011229, a Human Phenotype Ontology term): Regional increase in the width (height) of the eyebrow. Evidence: PCS. (PMID:27019227)
- Broad eyebrow (HP:0011229, a Human Phenotype Ontology term): Regional increase in the width (height) of the eyebrow. Evidence: PCS. Frequency: 2/2. (PMID:15804299)
- X-linked recessive inheritance (HP:0001419, a Human Phenotype Ontology term): A mode of inheritance that is observed for recessive traits related to a gene encoded on the X chromosome. In the context of medical genetics, X-linked recessive disorders manifest in males (who have one copy of the X chromosome and are thus hemizygotes), but generally not in female heterozygotes who have one mutant and one normal allele. Evidence: PCS. (PMID:27019227)
- Cutis marmorata (HP:0000965, a Human Phenotype Ontology term): A reticular discoloration of the skin with cyanotic (reddish-blue appearing) areas surrounding pale central areas due to dilation of capillary blood vessels and stagnation of blood within the vessels. Cutis marmorata generally occurs on the legs, arms and trunk and is often more severe in cold weather. Evidence: PCS. Frequency: 3/14. (PMID:27019227)
- Clubbing (HP:0001217, a Human Phenotype Ontology term): Broadening of the soft tissues (non-edematous swelling of soft tissues) of the digital tips in all dimensions associated with an increased longitudinal and lateral curvature of the nails. Evidence: PCS. Frequency: 3/14. (PMID:27019227)
- Visual impairment (HP:0000505, a Human Phenotype Ontology term): 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. (PMID:2705473)
- Generalized reticulate brown pigmentation (HP:0007599, a Human Phenotype Ontology term). Evidence: PCS. (PMID:2705473)
- Hypohidrosis (HP:0000966, a Human Phenotype Ontology term): Abnormally diminished capacity to sweat. Evidence: PCS. Frequency: 11/16. (PMID:27019227;PMID:15804299)
- Chronic diarrhea (HP:0002028, a Human Phenotype Ontology term): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: PCS. Frequency: 9/14. (PMID:27019227)
- Hyperkeratosis (HP:0000962, a Human Phenotype Ontology term): Hyperkeratosis is a histopathological term defining a thickened stratum corneum and may be present in many different skin conditions, with many possible overlaps. Hyperkeratosis refers to the increased thickness of the stratum corneum, the outer layer of the skin. Hyperkeratosis is subclassified as orthokeratotic or parakeratotic. Orthokeratotic hyperkeratosis refers to the thickening of the keratin layer with preserved keratinocyte maturation, while parakeratotic hyperkeratosis shows retained nuclei as a sign of delayed maturation of keratinocytes. Evidence: PCS. (PMID:2705473)
These phenotypes are associated with the disease X-linked reticulate pigmentary disorder (OMIM:301220, an entry in Online Mendelian Inheritance in Man).