Koolen-De Vries syndrome

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Koolen-De Vries syndrome

Synonyms: KdVS

A rare multisystem disorder characterized by neonatal/childhood hypotonia mild to moderate developmental delay or intellectual disability epilepsy dysmorphic facial features hypermetropia congenital heart anomalies congenital renal/urologic anomalies musculoskeletal problems and a friendly/amiable disposition.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.

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Koolen-De Vries syndrome?

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