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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
General
periventricular nodular heterotopia (nodular brain heteropia)
Database Correlations
OMIM 608097
References
OMIM :accession 608097