- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 2/2. (PMID:12897212)
- Abnormality of the nervous system (HP:0000707): An abnormality of the nervous system. Evidence: PCS. Frequency: 0/2. (PMID:12897212)
- 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:12897212)
- Silver-gray hair (HP:0002218): Hypopigmented hair that appears silver-gray. Evidence: PCS. Frequency: 2/2. (PMID:12897212)
- Large clumps of pigment irregularly distributed along hair shaft (HP:0004527). Evidence: PCS. Frequency: 2/2. (PMID:12897212)
- White eyelashes (HP:0002227): White color (lack of pigmentation) of the eyelashes. Evidence: PCS. Frequency: 2/2. (PMID:12897212)
- Immunodeficiency (HP:0002721): Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance. Evidence: PCS. Frequency: 0/2. (PMID:12897212)
These phenotypes are associated with the disease Griscelli syndrome type 3 (OMIM:609227).