Gene Expression Ontology

Last uploaded: December 16, 2015
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Preferred Name

Periventricular nodular heterotopia 1
Synonyms

PVNH1
Definitions

(PVNH1) - 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. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period.
ID

http://identifiers.org/omim/300049
altLabel

PVNH1
definition

(PVNH1) - 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. PVNH1 is an X-linked dominant form. Heterozygous females have normal intelligence but suffer from seizures and various manifestations outside the central nervous system, especially related to the vascular system. Hemizygous affected males die in the prenatal or perinatal period.
id

OMIM:300049
notation

OMIM:300049
prefLabel

Periventricular nodular heterotopia 1
subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031
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