Table 1

Abbreviations used in the analysis, full name of the phenotypic categories, phenotypes aggregated in each category, prevalence of each phenotypic category in the study cohort (n=227) and representative HPO terms for each category

AbbreviationComplete namePhenotypePrevalence (%)HPO terms added in each category
VIVision impairmentsHistory of nystagmus in infancy/childhood, legal blindness, and cone and rod dystrophy by electroretinogram (ERG)97.80HP:0000556 (retinal dystrophy), HP:0000639 (nystagmus), HP:0000618 (blindness)
MTMetabolic anomaliesObesity and/or insulin resistance and/or T2DM85.02HP:0001513 (obesity), HP:0005978 (T2DM)
HLHearing anomaliesHearing loss59.91HP:0000365 (hearing loss)
HRTHeart anomaliesHistory of DCM/CHF49.34HP:0001644 (DCM), HP:0001635 (CHF)
LIVLiver anomaliesHepatic dysfunction36.56HP:0001410 (decreased liver function)
RENRenal anomaliesRenal failure29.52HP:0000077 (renal anomaly)
MENDMental anomaliesMental disability24.67HP:0001249 (intellectual disability)
PULPulmonary anomaliesPulmonary dysfunction19.38HP:0002795 (impaired pulmonary function)
REPReproductive system anomaliesMales: hypogonadism; females: irregular menses and/or hyperandrogenism17.62HP:0000026 (male hypogonadism), HP:0000858 (irregular menstruation)
TYDThyroid metabolism anomaliesThyroid disorders14.54HP:0000820 (abnormality of the thyroid gland)
SCOSpine/feet anomaliesScoliosis/flat wide feet13.22HP:0002650 (scoliosis), HP:0001763 (pes planus)
SHSStature anomaliesShort stature9.25HP:0004322 (short stature)
ALOAlopeciaAlopecia6.17HP:0001596 (alopecia)
NERNervous system anomaliesEpilepsy3.08HP:0001250 (seizure)
ABFINGFinger anomaliesAbnormal appearance of a finger1.32HP:0001155 (abnormality of the hand)
INTIntestinal anomaliesIntestinal problems1.32HP:0011024 (abnormality of the gastrointestinal tract)
  • CHF, congestive heart failure; DCM, dilated cardiomyopathy; HPO, Human Phenotype Ontology; T2DM, type 2 diabetes mellitus.