- Menorrhagia (HP:0000132): Prolonged and excessive menses at regular intervals in excess of 80 mL or lasting longer than 7 days. Evidence: PCS. Frequency: 1/2. (PMID:32565547)
- Albinism (HP:0001022): An abnormal reduction in the amount of pigmentation (reduced or absent) of skin, hair and eye (iris and retina). Evidence: PCS. Frequency: 2/2. (PMID:32565547)
- Strabismus (HP:0000486): A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error. Evidence: PCS. Frequency: 1/2. (PMID:32565547)
- Fair hair (HP:0002286): A lesser degree of hair pigmentation than would otherwise be expected. Evidence: PCS. Frequency: 2/2. (PMID:32565547)
- Iris transillumination defect (HP:0012805): Transmission of light through the iris as visualized upon slit lamp examination or infrared iris transillumination videography. The light passes through defects in the pigmentation of the iris. Evidence: PCS. Frequency: 2/2. (PMID:32565547)
- Reduced platelet dense granules (HP:0033535): Decreased number of platelet dense granules, a type of platelet organelle. Evidence: IEA. Frequency: 2/2. (PMID:32565547)
- Nystagmus (HP:0000639): Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms. Evidence: PCS. Frequency: 2/2. (PMID:32565547)
- Impaired collagen-induced platelet aggregation (HP:0008320): Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics. Evidence: PCS. Frequency: 2/2. (PMID:32565547)
- Hypoplasia of the fovea (HP:0007750): Underdevelopment of the fovea centralis. Evidence: PCS. Frequency: 1/2. (PMID:32565547)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: PCS. Frequency: 1/2. (PMID:32565547)
- 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:32565547)
- Reduced visual acuity (HP:0007663). Evidence: PCS. Frequency: 2/2. (PMID:32565547)
- Ocular albinism (HP:0001107): An abnormal reduction in the amount of pigmentation (reduced or absent) of the iris and retina. Evidence: PCS. Frequency: 2/2. (PMID:32565547)
- Bruising susceptibility (HP:0000978): An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma. Evidence: PCS. Frequency: 1/2. (PMID:32565547)
- Epistaxis (HP:0000421): Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose. Evidence: PCS. Frequency: 2/2. (PMID:32565547)
- Gingival bleeding (HP:0000225): Hemorrhage affecting the gingiva. Evidence: PCS. Frequency: 1/2. (PMID:32565547)
- Melanocytic nevus (HP:0000995): A oval and round, colored (usually medium-to dark brown, reddish brown, or flesh colored) lesion. Typically, a melanocytic nevus is less than 6 mm in diameter, but may be much smaller or larger. Evidence: PCS. Frequency: 1/2. (PMID:32565547)
These phenotypes are associated with the disease Hermansky-Pudlak syndrome 11 (OMIM:619172).