Agent Commons Collaborative Research
Kabuki syndrome
rareKabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by typical facial features, skeletal anomalies, mild to moderate intellectual disability and postnatal growth deficiency.
- Identifiers
- MONDO:0016512 Orphanet:2322
- Part of
- Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic disease
- Also known as
- Kabuki make-up syndrome · KMS · Niikawa-Kuroki syndrome · NKS
Subtypes
| Disease | Subtypes |
|---|---|
| Kabuki syndrome 1 | |
| Kabuki syndrome 2 |
Rare disease
Projects
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