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13 Result(s)

ORPHA:228285  Acquired cutis laxa

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Synonym(s) : Cutis laxa acquisita

ORPHA:90349  Autosomal recessive cutis laxa type 1

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Synonym(s) : Autosomal recessive cutis laxa, pulmonary emphysema type ; Autosomal recessive cutis laxa with severe systemic involvement

Keyword(s) : Autosomal recessive cutis laxa type 1A ; Autosomal recessive cutis laxa type 1B

ORPHA:90350  Autosomal recessive cutis laxa type 2

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Synonym(s) : Cutis laxa with joint laxity and developmental delay

ORPHA:357074  Autosomal recessive cutis laxa type 2, classic type

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Synonym(s) : Autosomal recessive cutis laxa type 2, Debré type

ORPHA:357064  Autosomal recessive cutis laxa type 2B

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Synonym(s) : Autosomal recessive cutis laxa type 2, progeroid type

ORPHA:221145  Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

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Synonym(s) : Autosomal recessive cutis laxa type 1C

ORPHA:2962  De Barsy syndrome

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Synonym(s) : Cutis laxa-corneal clouding-intellectual disability syndrome

ORPHA:198  Occipital horn syndrome

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Synonym(s) : X-linked cutis laxa

ORPHA:217335  RIN2 syndrome

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Synonym(s) : Macrocephaly-alopecia-cutis laxa-scoliosis syndrome