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"Niemann-Pick" "disease," type A
- ... called MCAD deficiency Maple syrup urine disease Mucolipidosis type IV CLN5 disease , also called neuronal ceroid lipofuscinosis ( CLN5 -related) CLN1 disease , also called neuronal ceroid lipofuscinosis ( PPT1 -related) Niemann-Pick disease Nijmegen breakage syndrome Nonsyndromic hearing loss Pendred ...