- Microcephaly (HP:0000252, a Human Phenotype Ontology term): Head circumference below 2 standard deviations below the mean for age and gender. Evidence: PCS. Frequency: 1/1. (PMID:27486776)
- Delayed speech and language development (HP:0000750, a Human Phenotype Ontology term): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:32144365)
- Large for gestational age (HP:0001520, a Human Phenotype Ontology term): The term large for gestational age applies to babies whose birth weight lies above the 90th percentile for that gestational age. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:32144365)
- 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: 1/1. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:32144365)
- Polydactyly (HP:0010442, a Human Phenotype Ontology term): A congenital anomaly characterized by the presence of supernumerary fingers or toes. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:27486776)
- 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:27486776)
- Visual impairment (HP:0000505, a Human Phenotype Ontology term): Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:32144365)
- Postaxial foot polydactyly (HP:0001830, a Human Phenotype Ontology term): Polydactyly of the foot most commonly refers to the presence of six toes on one foot. Postaxial polydactyly affects the lateral ray and the duplication may range from a well-formed articulated digit to a rudimentary digit. Evidence: PCS. Frequency: 1/1. Onset: Congenital onset (HP:0003577, a Human Phenotype Ontology term). (PMID:32144365)
- Rod-cone dystrophy (HP:0000510, a Human Phenotype Ontology term): An inherited retinal disease subtype in which the rod photoreceptors appear to be more severely affected than the cone photoreceptors. Typical presentation is with nyctalopia (due to rod dysfunction) followed by loss of mid-peripheral field of vision, which gradually extends and leaves many patients with a small central island of vision due to the preservation of macular cones. Evidence: PCS. Frequency: 1/1. (PMID:27486776)
- Hypogonadism (HP:0000135, a Human Phenotype Ontology term): A decreased functionality of the gonad. Evidence: PCS. Frequency: 1/1. (PMID:27486776)
- Macrocephaly (HP:0000256, a Human Phenotype Ontology term): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: PCS. Frequency: 1/1. Onset: Infantile onset (HP:0003593, a Human Phenotype Ontology term). (PMID:32144365)
- 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: 1/2. (PMID:32144365;PMID:27486776)
- Obesity (HP:0001513, a Human Phenotype Ontology term): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 1/1. (PMID:27486776)
- Obesity (HP:0001513, a Human Phenotype Ontology term): Accumulation of substantial excess body fat. Evidence: PCS. Frequency: 1/1. Onset: Childhood onset (HP:0011463, a Human Phenotype Ontology term). (PMID:32144365)
- Macular hypopigmentation (HP:0007988, a Human Phenotype Ontology term): Decreased amount of pigmentation in the macula. Evidence: PCS. Frequency: 1/1. (PMID:32144365)
These phenotypes are associated with the disease Bardet-Biedl syndrome 22 (OMIM:617119, an entry in Online Mendelian Inheritance in Man).