- Progressive (HP:0003676): Applies to a disease manifestation that increases in scope or severity over the course of time, i.e., that worsens with age. Evidence: PCS. (PMID:26945816)
- Cherry red spot of the macula (HP:0010729): Pallor of the perifoveal macula of the retina with appearance of a small circular reddish choroid shape as seen through the fovea centralis due to relative transparency of the macula. Evidence: IEA. (OMIM:228000)
- Hepatomegaly (HP:0002240): Abnormally increased size of the liver. Evidence: PCS. (PMID:30029679)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: IEA. (OMIM:228000)
- Limitation of knee mobility (HP:0010501): An abnormal limitation of knee joint mobility. Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: IEA. (OMIM:228000)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: IEA. (OMIM:228000)
- Childhood onset (HP:0011463): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- Lipogranulomatosis (HP:0040139): Yellow nodules of lipoid material are deposited in the skin and mucosae. This gives rise to granulomatous reactions. Evidence: IEA. (OMIM:228000)
- Intellectual disability (HP:0001249): 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: IEA. (OMIM:228000)
- Splenomegaly (HP:0001744): Abnormal increased size of the spleen. Evidence: PCS. (PMID:30029679)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: PCS. (PMID:30029679)
- Joint swelling (HP:0001386). Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- Hyperextensibility of the finger joints (HP:0001187): The ability of the finger joints to move beyond their normal range of motion. Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- Ulnar deviation of the wrist (HP:0003049). Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- Subcutaneous nodule (HP:0001482): Slightly elevated lesions on or in the skin with a diameter of over 5 mm. Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- Respiratory insufficiency (HP:0002093). Evidence: IEA. (OMIM:228000)
- Periarticular subcutaneous nodules (HP:0007470): Subcutaneous nodules that are located in the vicinity of joints. Evidence: PCS. (PMID:26945816)
- Decreased acid ceramidase activity (HP:0034053). Evidence: PCS. (PMID:30029679)
- Arthralgia (HP:0002829): Joint pain. Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- Osteolytic defects of the phalanges of the hand (HP:0009771): Dissolution or degeneration of bone tissue of the phalanges of the hand. Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- Osteolysis involving bones of the feet (HP:0009134). Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- 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:8955159)
- Recurrent fever (HP:0001954): Periodic (episodic or recurrent) bouts of fever. Evidence: PCS. Frequency: 1/1. (PMID:26945816)
- Hoarse cry (HP:0001615). Evidence: IEA. (OMIM:228000)
These phenotypes are associated with the disease Farber lipogranulomatosis (OMIM:228000).