ICD-10: E80.2

monogenic disease Bamforth-Lazarus syndrome Brody myopathy AGAT deficiency PSPH deficiency Ogden syndrome Kahrizi syndrome episodic ataxia type 5 episodic ataxia type 6 episodic ataxia type 8 Pearson syndrome Carpenter syndrome MEDNIK syndrome Barber-Say syndrome Holzgreve-Wagner-Rehder Syndrome Yunis-Varon syndrome Prieto syndrome Miles-Carpenter syndrome Griscelli syndrome type 2 acute porphyria