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Spastic paraplegia-precocious puberty syndrome
rareSpastic paraplegia-precocious puberty syndrome is characterized by precocious puberty (due to Leydig cell hyperplasia), progressive spastic paraplegia and intellectual deficit. It has been described in two brothers. The fact that other family members displayed brisk reflexes and dysarthria suggested autosomal dominant inheritance with variable expression.
- Identifiers
- MONDO:0008443 OMIM:182820Orphanet:2826
- Also known as
- familial spastic paraplegia, intellectual disability, and precocious puberty · familial spastic paraplegia, mental retardation, and precocious puberty
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