- Curly hair (HP:0002212). Evidence: IEA. (OMIM:258360)
- 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: IEA. (OMIM:258360)
- Chronic irritative conjunctivitis (HP:0007717): A chronic irritative conjunctivitis, which commonly presents with general irritation and redness of the eyes, with a burning, dry, or foreign-body sensation of the eyes. Evidence: IEA. (OMIM:258360)
- Global developmental delay (HP:0001263): 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: IEA. (OMIM:258360)
- Persistently decreased total neutrophil count (HP:0410252): Abnormal decrease of the absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group, which persists for 3 or more months. Evidence: IEA. (OMIM:258360)
- Short eyelashes (HP:0010764): Decreased length of the eyelashes (subjective). Evidence: TAS. (OMIM:258360)
- Recurrent infections (HP:0002719): Increased susceptibility to infections as manifested by repeated bouts of infection. Evidence: IEA. (OMIM:258360)
- Hypoplastic fingernail (HP:0001804): Underdevelopment of a fingernail. Evidence: IEA. (OMIM:258360)
- 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: IEA. (OMIM:258360)
- Trichorrhexis nodosa (HP:0009886): Trichorrhexis nodosa is the formation of nodes along the hair shaft through which breakage readily occurs. It is thus a focal defect in the hair fiber that is characterized by thickening or weak points (nodes) that cause the hair to break off easily. The result is defective, abnormally fragile hair. Evidence: TAS. (OMIM:258360)
- Increased total lymphocyte count (HP:0100827): Increase in the number or proportion of lymphocytes in the blood. Evidence: TAS. (OMIM:258360)
- Curly eyelashes (HP:0007665): Abnormally curly or curved eyelashes. Evidence: TAS. (OMIM:258360)
- Concave nail (HP:0001598): The natural longitudinal (posterodistal) convex arch is not present or is inverted. Evidence: IEA. (OMIM:258360)
- Sparse pubic hair (HP:0002225): Reduced number or density of pubic hair. Evidence: IEA. (OMIM:258360)
- Decreased total neutrophil count (HP:0001875): Abnormal decrease of absolute number of neutrophils in the blood, per microlitre, compared to a reference range for a given sex and age-group. Evidence: TAS. (OMIM:258360)
These phenotypes are associated with the disease Onychotrichodysplasia and neutropenia (OMIM:258360).