Rare Disease Library

Autosomal recessive cutis laxa type 1

ARCL1 · Autosomal recessive cutis laxa with severe systemic involvement

Autosomal recessive cutis laxa type 2

Cutis laxa with joint laxity and developmental delay · ARCL2

Autosomal recessive cutis laxa type 2, classic type

ARCL2, Debré type · ARCL2, classic type

Autosomal recessive cutis laxa type 2A

ARCL2A

Autosomal recessive cutis laxa type 2B

ARCL2, progeroid type · ARCL2B

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

ARCL1C · Autosomal recessive cutis laxa type 1C

OBSOLETE: Autosomal recessive limb-girdle muscular dystrophy with cerebellar involvement

OBSOLETE: Autosomal recessive LGMD with cerebellar involvement