Rare Disease Library

Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction

Autosomal recessive complex SPG due to Kennedy pathway dysfunction · Autosomal recessive spastic paraplegia type 81

Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency

Stüve-Wiedemann syndrome type 2 · AR CID due to complete GP130 deficiency

Autosomal recessive complex spastic paraplegia

Autosomal recessive complex HSP · Autosomal recessive complex SPG

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency

Autosomal recessive MSMD due to a complete deficiency

Autosomal recessive pure spastic paraplegia

Autosomal recessive pure HSP · Autosomal recessive pure SPG

Pure or complex autosomal recessive spastic paraplegia

Pure or complicated autosomal recessive spastic paraplegia