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Ataxia with vitamin E deficiency
Gene: TTPA
Atopic dermatitis/Ichthyosis vulgaris
Gene: FLG: p.R501* and c.2282del4
Ataxia with oculomotor apraxia, type 1
Gene: APTX
Ataxia with oculomotor apraxia, type 2
Gene: SETX
Arthrogryposis, distal, type 1A
Gene: TPM2
Arthrogryposis, distal, type 1B
Gene: MYBPC1
Arthrogryposis, renal dysfunction, cholestasis syndrome
Gene: VPS33B
Ataxia telangiectasia
Gene: ATM
Antley-Bixler syndrome, type 2
Gene: POR
Apert syndrome
Gene: FGFR2
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