Table 2.

Select Features of SOX2 Disorder: Frequency of Human Phenotype Ontology (HPO) Terms

Frequency of
Phenotypic Feature in
Case Reports (n=38)		HPO TermHPO Term Frequency 1
in Case Reports (n=38)
Highly frequent Anophthalmia92
Microphthalmia37
Micropenis22
Seizures21
Cryptorchidism16
Developmental delay15
Dystonia12
Moderately frequent Generalized hypotonia8
Hypoplasia of corpus callosum8
Motor delay7
Fever7
Coloboma7
Optic nerve hypoplasia7
Frontal bossing7
Spastic diplegia7
Feeding difficulties6
Wide nasal bridge6
Short stature6
Arachnoid cyst6
Growth delay6
Cataract6
Less frequent Hydrocephalus5
Delayed puberty5
Esophageal atresia5
Hypertelorism5
Short palpebral fissure5
Delayed speech & language development5

Data were extracted from full text case reports exclusively describing SOX2 disorder (n=38) using exact string matching. The Human Phenotype Ontology (HPO) enables use of precise, standardized, computationally accessible terms to describe phenotypic abnormalities. The ontology structure describes the relationship of terms to each other [Köhler et al 2019]. HPO terms that appear fewer than four times were excluded.

1.

Frequency refers to the number of times the term was used in all included case reports.

From: SOX2 Disorder

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