Kleefstra syndrome

MONDO:0012455

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.

Also known as: 9Q subtelomeric deletion syndrome, 9Q- syndrome, 9q-syndrome, 9q34 deletion syndrome, 9q34.3 microdeletion syndrome, Kleefstra syndrome, chromosome 9Q34.3 deletion syndrome, chromosome 9q deletion syndrome

0 clinical trials for this condition and its sub-types, 0 tagged with Kleefstra syndrome itself.

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↑ Hereditary disease (18187) ↑ Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (59)

Sub-types of Kleefstra syndrome

Kleefstra syndrome 1 0 trials
1 sub-type
- Kleefstra syndrome due to 9q34 microdeletion 0 trials
Kleefstra syndrome 2 0 trials
Kleefstra syndrome due to a point mutation 0 trials

Including sub-types (0) Tagged with Kleefstra syndrome (0)

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