- Hypertriglyceridemia (HP:0002155, a Human Phenotype Ontology term): An abnormal increase in the level of triglycerides in the blood. Evidence: PCS. Frequency: 1/3. (PMID:29311637)
- Hyperlipidemia (HP:0003077, a Human Phenotype Ontology term): An elevated lipid concentration in the blood. Evidence: PCS. (PMID:29311637)
- Polyphagia (HP:0002591, a Human Phenotype Ontology term): A neurological anomaly with gross overeating associated with an abnormally strong desire or need to eat. Evidence: PCS. Frequency: 4/4. (PMID:29311637)
- Infantile onset (HP:0003593, a Human Phenotype Ontology term): Onset of signs or symptoms of disease between 28 days to one year of life. Evidence: PCS. (PMID:29311637)
- Increased serum leptin (HP:0031793, a Human Phenotype Ontology term): An increased concentration of leptin in the blood. Evidence: PCS. Frequency: 3/3. (PMID:29311637)
- Childhood onset (HP:0011463, a Human Phenotype Ontology term): Onset of disease at the age of between 1 and 5 years. Evidence: PCS. (PMID:29311637)
- Insulin resistance (HP:0000855, a Human Phenotype Ontology term): Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. Evidence: PCS. Frequency: 1/4. (PMID:29311637)
- Anosmia (HP:0000458, a Human Phenotype Ontology term): An inability to perceive odors. This is a general term describing inability to smell arising in any part of the process of smelling from absorption of odorants into the nasal mucous overlying the olfactory epithelium, diffusion to the cilia, binding to olfactory receptor sites, generation of action potentials in olfactory neurons, and perception of a smell. Evidence: PCS. Frequency: 3/4. (PMID:29311637)
- Hyposmia (HP:0004409, a Human Phenotype Ontology term): A decreased sensitivity to odorants (that is, a decreased ability to perceive odors). Evidence: PCS. Frequency: 2/4. (PMID:29311637)
- Autosomal recessive inheritance (HP:0000007, a Human Phenotype Ontology term): 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:29311637)
- 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: 2/4. (PMID:29311637)
- Obesity (HP:0001513, a Human Phenotype Ontology term): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 4/4. (PMID:29311637)
- Hyperinsulinemia (HP:0000842, a Human Phenotype Ontology term): An increased concentration of insulin in the blood. Evidence: PCS. Frequency: 1/3. (PMID:29311637)
These phenotypes are associated with the disease Body mass index quantitative trait locus 19 (OMIM:617885, an entry in Online Mendelian Inheritance in Man).