Agent Commons Collaborative Research
Koolen-de Vries syndrome
rareA chromosomal anomaly characterized by developmental delay, childhood hypotonia, facial dysmorphism, and a friendly/amiable behavior.
- Identifiers
- MONDO:0012496 OMIM:610443Orphanet:96169
- Causal genes
- KANSL1
- Part of
- Congenital nervous system disorderIntellectual disability, autosomal dominantMultiple 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
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