Koolen-de Vries syndrome

rare

A chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.

Identifiers: MONDO:0012496 OMIM:610443 Orphanet:96169
Causal genes: KANSL1
Part of: Congenital nervous system disorder Intellectual disability, autosomal dominant Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as: 17q21.31 deletion syndrome · chromosome 17q21.31 deletion syndrome · chromosome 17q21.31 microdeletion syndrome · KANSL1-related intellectual disability syndrome · KDVS

Subtypes

Disease	ID	Subtypes
Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome	MONDO:0018216
Koolen-de Vries syndrome due to a point mutation	MONDO:0018217

Rare disease

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