Periventricular Heterotopia with Microcephaly, Autosomal Recessive (ARPHM)

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OMIM® 57 608097 OMIM Phenotypic Series 57 PS300049 MeSH 44 D054091

MedGen 41 C1842563 SNOMED-CT via HPO 68 128613002 204043002 224958001 246545002 258211005 28055006 313307000 36440009 40700009 412786000 432788009 84757009 91175000 91327001 more UMLS 70 C1842563

UniProtKB/Swiss-Prot : ⁷² 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 cortex and eye, and related phenotypes are failure to thrive and global developmental delay

More information from OMIM: 608097 PS300049

Clinical features from OMIM®:

608097 (Updated 05-Apr-2021)

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

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