periventricular nodular heterotopia type-2; periventricular heterotopia with microcephaly

Pathology

• see periventricular nodular heterotopia

Genetics

• autosomal recessive
• associated with defects in ARFGEF2

Clinical manifestations

• microcephaly
• severe developmental dela
• recurrent infections
• no anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions

More general terms

• periventricular nodular heterotopia (nodular brain heteropia)

Database

• OMIM: https://mirror.omim.org/entry/608097