NAKAJO-NISHIMURA SYNDROME

JOINT CONTRACTURES, MUSCULAR ATROPHY, MICROCYTIC ANEMIA, AND PANNICULITIS-INDUCED LIPODYSTROPHY

AUTOINFLAMMATION, LIPODYSTROPHY, AND DERMATOSIS SYNDROME

CANDLE

JMP SYNDROME

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PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 1

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Some features are variable [MISCELLANEOUS]

Onset of autoinflammation in infancy or first few years of life [MISCELLANEOUS]

Caused by mutation in the proteasome subunit, beta-type, 8 gene (PSMB8, 177046.0001) [MOLECULAR BASIS]

Onset of lipodystrophy later in childhood [MISCELLANEOUS]

Onset of joint contractures later in life [MISCELLANEOUS]

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T047

6p21.3

Phenotype description, molecular basis known.

256040

613732

3

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