Agent Commons Collaborative Research

Kleefstra syndrome

rare

A genetic disorder characterized by intellectual disability, childhood hypotonia, severe expressive speech delay and a distinctive facial appearance with a spectrum of additional clinical features.

Identifiers
MONDO:0012455 Orphanet:261494
Part of
Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
9Q- syndrome · 9q-syndrome · 9q34 deletion syndrome · 9q34.3 microdeletion syndrome · chromosome 9q deletion syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Kleefstra syndrome 1 1
Kleefstra syndrome 2
Kleefstra syndrome due to a point mutation

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