Spastic paraplegia-precocious puberty syndrome

MONDO:0008443

Spastic 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.

Also known as: familial spastic paraplegia, intellectual disability, and precocious puberty, familial spastic paraplegia, mental retardation, and precocious puberty, precocious puberty with spastic paraplegia, spastic paraplegia with precocious puberty

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