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Periventricular heterotopia (PH)

DA: 466

Developmental anomaly information

Definition: Periventricular heterotopia (PH) represents a neuronal migration disorder that results in gray matter nodules along the lateral ventricles beneath an otherwise normal appearing cortex. While prior reports have shown that mutations in the filamin A (FLNA) gene can cause X-linked dominant PH, an increasing number of studies suggest the existence of additional PH syndromes. Further classification of these cortical malformation syndromes associated with PH allows for determination of the causal genes.

Developmental anomaly parent: (empty)

Topology: Human body > Head and neck > Head > Cranium > Brain

System: Human body > Nervous system > Central nervous system > Brain

Developmental anomaly category: Malformation

Case records MDB95, MDB181
Observed in MDB cases
Observed in combinaisons (MDB)
Observed in malformative diseases (MDB)
Associated genes in profile
Associated genes in malformative diseases
Associated chromosomal diseases
Associated signaling pathways
Associated developmental anomalies

Here is the list of developmental anomalies associated with this developmental anomaly, based on the cases' information :

Last modified: 2008-12-15 15:55:24 by farideh

Created: 2008-07-25 21:03:15 by farideh

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