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MedGen (OMIM) for PubMed (Select 15249610)

Items: 2

1.

X-linked periventricular heterotopia

X-linked periventricular heterotopia (PH), a neuronal migration disorder, is characterized by the presence of uncalcified nodules of neurons ectopically situated along the surface of the lateral ventricles. Affected individuals are predominantly heterozygous females; males show early lethality. Affected females present with seizures at an average age of 14-15 years; intelligence ranges from normal to borderline. The risk for stroke and other vascular/coagulation problems appears to be increased. [from GeneReviews]

MedGen UID:
376309
Concept ID:
C1848213
Congenital Abnormality; Disease or Syndrome
2.

Heterotopia, Periventricular Nodular, with Frontometaphyseal Dysplasia

MedGen UID:
336289
Concept ID:
C1848214
Disease or Syndrome

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