Table 2.

Summary of clinical features in this cohort

Clinical findings (HPO identifier)	Frequency	%
Ancestry	2 Asian, 4 European	–
Sex	3 male, 3 female	–
De novo inheritance (HP:0025352)	6/6	100.0
Intellectual disability (HP:0001249)	5/6	83.3
Neurodevelopmental delay (HP:0012758)	5/6	83.3
Abnormality of the musculoskeletal system (HP:0033127)	4/6	66.7
Seizure (HP:0001250)	3/6	50.0
Abnormal facial shape (HP:0001999)	3/6	50.0
Brain imaging abnormality (HP:0410263)	3/6	50.0
Abnormality of the genitourinary system (HP:0000119)	3/6	50.0
Microcephaly (HP:0000252)	2/6	33.3
Hearing impairment (HP:0000365)	2/6	33.3
Failure to thrive (HP:0001508)	2/6	33.3
Abnormal heart morphology (HP:0001627)	2/6	33.3
Autistic behavior (HP:0000729)	2/6	33.3
Abnormality of the endocrine system (HP:0000818)	1/6	16.7

Abbreviation: HPO, human phenotype ontology.