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Infantile cerebellar-retinal degeneration
neurodegenerative disease that is characterized by onset between ages 2 and 6 months of truncal hypotonia, athetosis, seizures, and ophthalmologic abnormalities, particularly optic atrophy and retinal degeneration
Pronunciation
/ˈɪnfəntʌɪl ˌsɛrəˈbɛlə - ˈrɛtɪnəl dɪˌʤɛnəˈreɪʃən/
/ˈɪnfəntɪl ˌsɛrəˈbɛlər - ˈrɛtnəl dəˌʤɛnəˈreɪʃən/
Categories
autosomal recessive disease
disease
neurometabolic disease
neurodegeneration
rare disease