Table 1.

Phenotype reporting checklist (PHELIX_General version 1.0)

Phenotype category	Recommendation category	Specific recommendation for inclusion in report
1. Development and cognition	Strongly recommended	i. Standard and specific diagnostic term(s) for cognitive or developmental issue(s) ii. Level of cognitive functioning or degree of developmental delay iii. Age of attaining major milestones iv. Quantitative results from psychometric testing OR explicit acknowledgement that these results were not available
	Optional, but encouraged	v. Narrative summary describing progression/change in cognitive or development issue(s) over time.
2. Behaviour and neuropsychiatric conditions	Strongly recommended	i. Standard and specific diagnostic term(s) for behavioural issues
	Optional, but encouraged	ii. Reported functional impact of behavioural/psychiatric condition iii. Age at diagnosis and/or age at first concern for behavioural issues iv. Impact of treatments/interventions, as reported by individuals, families, and/or clinicians
3. Other medical conditions	Strongly recommended	i. Major medical conditions ii. Presence or absence of issues in the following areas (if potentially associated with the condition under study): • Visual acuity and field of vision • Hearing ability • Speech/communication • Continence/toileting • Ambulation
4. Feeding issues	Strongly recommended	i. Functional impact of feeding issues ii. Current feeding method (e.g. oral, gastrostomy tube)
	Optional, but encouraged	iii. Age at first concern for feeding issues iv. Interventions and supports for feeding issues (e.g. feeding tube support)
5. Growth	Strongly recommended	i. Birth growth measurements AND gestational age-corrected centiles ii. Growth measurements (absolute values and z-scores) at two or more post-birth timepoints (where possible)
6. Medication and treatment history	Optional, but encouraged	i. Details of efficacious treatment(s) ii. Severe adverse events/reactions
7. Pain, sleep, and quality of life	Optional, but encouraged	i. Presence or absence of pain/neuroirritability ii. Presence or absence of abnormal sleep patterns/sleep disturbance iii. Qualitative description of proxies for quality of life, via patient and/or caregiver report iv. Direct assessment of quality of life using established measure(s), via patient and/or caregiver report
8. Indicators of adult functional outcome	Strongly recommended	i. Age at which the adult was last seen/phenotyped ii. Description of educational achievement iii. Nature of any employment (past and/or present)
	Optional, but encouraged	iv. Relationship status (past and/or present) v. Reproductive history
9.Other	Strongly recommended	i. Confirmation of informed consent to participate in the research study and to include the above phenotype information, for each participant ii. Distinguish between “not assessed” and “assessed and not present,” for every aspect of a phenotype described in the report and for each participant iii. Description of how phenotyping was performed (e.g. direct assessment by study team member(s), review of medical records, information provided on testing requisition), for each participant iv. Use of phenotype ontologies (e.g. HPO, ICD-11) and reporting tools (e.g. Phenopackets Schema) to standardize reporting, for each participant v. [For deceased participants] Cause of death

HPO Human Phenotype Ontology, ICD-11 International Classification of Diseases 11th Revision.