Periventricular Heterotopia with Microcephaly, Autosomal Recessive (PVNH2)

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OMIM 57 608097 MedGen 42 C1842563 MeSH 44 D054091

SNOMED-CT via HPO 69 258211005 15805002 412786000 128613002 246545002 313307000 84757009 91175000 224958001 36440009 432788009 204043002 91327001 28055006 40700009 more UMLS 73 C1842563

UniProtKB/Swiss-Prot : ⁷⁵ Periventricular nodular heterotopia 2: A developmental disorder characterized by the presence of periventricular nodules of cerebral gray matter, resulting from a failure of neurons to migrate normally from the lateral ventricular proliferative zone, where they are formed, to the cerebral cortex. PVNH2 is an autosomal recessive form characterized by microcephaly (small brain), severe developmental delay and recurrent infections. No anomalies extrinsic to the central nervous system, such as dysmorphic features or grossly abnormal endocrine or other conditions, are associated with PVNH2.

MalaCards based summary : Periventricular Heterotopia with Microcephaly, Autosomal Recessive, is also known as heterotopia, periventricular, autosomal recessive, and has symptoms including seizures and quadriparesis. An important gene associated with Periventricular Heterotopia with Microcephaly, Autosomal Recessive is ARFGEF2 (ADP Ribosylation Factor Guanine Nucleotide Exchange Factor 2). Affiliated tissues include brain, cortex and eye, and related phenotypes are seizures and failure to thrive

Description from OMIM: 608097

Clinical features from OMIM:

608097

Search Clinical Trials , NIH Clinical Center for Periventricular Heterotopia with Microcephaly, Autosomal Recessive

Search GEO for disease gene expression data for Periventricular Heterotopia with Microcephaly, Autosomal Recessive.