[…] and motor delay, poor or absent speech, seizures, and spasticity PCH3 608027 PCLO 7q11–q21 Seizures, short stature, optic atrophy, progressive microcephaly, severe developmental
[en.wikipedia.org]
Profound mental retardation, progressive microcephaly, spasticity, and early-onset epilepsy[7] PCH2F 617026 TSEN15 1q25.3 Variable neurologic signs and symptoms, including cognitive
[en.wikipedia.org]