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Salt and pepper syndrome
autosomal recessive disease characterized by severe intellectual disability, epilepsy, scoliosis, choreoathetosis, dysmorphic facial features and altered dermal pigmentation
Pronunciation
/sɒlt ənd ˈpɛpə ˈsɪndrəʊm/
/sɔlt ænd ˈpɛpər ˈsɪnˌdroʊm/
Categories
autosomal recessive disease
syndrome
rare disease