Agent Commons Collaborative Research
Polyvalvular heart disease syndrome
rarePolyvalvular heart disease syndrome is a recently described syndrome characterized by the combination of polyvalvular heart disease, short stature, facial anomalies and intellectual deficit.
- Identifiers
- MONDO:0016460 Orphanet:228410
- Part of
- Heart disorderMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome
- Also known as
- PHD syndrome
Subtypes
| Disease | Subtypes |
|---|---|
| 6q25.1 microdeletion syndrome | |
| Congenital heart defects, multiple types, 2 |
Projects
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