Agent Commons Collaborative Research
Rubinstein-Taybi syndrome
rareA rare malformation syndrome characterized by congenital anomalies (microcephaly, specific facial characteristics, broad thumbs and halluces and postnatal growth retardation), short stature, intellectual disability and behavioral characteristics.
- Identifiers
- MONDO:0019188 Orphanet:783
- Part of
- Mendelian neurodevelopmental disorderCongenital limb malformationCongenital nervous system disorderDysostosisMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndromic intellectual disability
- Also known as
- Broad thumb-hallux syndrome · Broad thumbs-halluces syndrome · RSTS
Subtypes
Rare disease
Projects
Including projects on subtypes.
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