ɪnˈɪʃəl kˈeɪs ɹᵻpˈoːɹts aɪdˈɛntᵻfˌaɪd ˌɪndᵻvˈɪdʒuːəlz wɪð dɪvˈɛləpmˈɛntəl dᵻlˈeɪ ænd ˈɛpɪlˌɛpsi, haʊˈɛvɚ mˈoʊst kˈeɪsᵻz aɪdˈɛntᵻfˌaɪd θɹuː nˈuːbɔːɹn skɹˈiːnɪŋ hɐvbɪn ˌæsɪmptəmˈæɾɪk.
Initial case reports identified individuals with developmental delay and epilepsy, however most cases identified through newborn screening have been asymptomatic.