Additional Disease Briefs

autosomal recessive cutis laxa type 2A

Also known as: ARCL2A, autosomal recessive cutis laxa type 2A, autosomal recessive cutis laxa type IIA, cutis laxa with Joint laxity and retarded development, cutis laxa with bone dystrophy, cutis laxa with congenital disorder of glycosylation, cutis laxa with growth and developmental delay, cutis laxa, autosomal recessive type 2A, cutis laxa, autosomal recessive, type 2A, cutis laxa, autosomal recessive, type IIA, cutis laxa, debre type

autosomal recessive cutis laxa type 2B

Also known as: ARCL2, progeroid type, ARCL2B, PYCR1 autosomal recessive cutis laxa type 2, autosomal recessive cutis laxa type 2 caused by mutation in PYCR1, autosomal recessive cutis laxa type 2, progeroid type, autosomal recessive cutis laxa type 2B, autosomal recessive cutis laxa type IIB, cutis laxa with progeroid features, cutis laxa, autosomal recessive type 2B, cutis laxa, autosomal recessive, type 2B, cutis laxa, autosomal recessive, type IIB

autosomal recessive cutis laxa type 2C

Also known as: ARCL2C, autosomal recessive cutis laxa type IIC, cutis laxa, autosomal recessive, type 2C, cutis laxa, autosomal recessive, type IIC

autosomal recessive cutis laxa type 2D

Also known as: ARCL2D, autosomal recessive cutis laxa type IID, cutis laxa, autosomal recessive, type 2D, cutis laxa, autosomal recessive, type IID

autosomal recessive distal renal tubular acidosis

Also known as: AR dRTA, autosomal recessive distal RTA, autosomal recessive distal renal tubular acidosis (disease), distal renal tubular acidosis (disease), autosomal recessive

autosomal recessive distal spinal muscular atrophy 2

Also known as: DSMA2, HMNJ, MNDJ, autosomal recessive distal spinal muscular atrophy type 2, dHMNJ, distal hereditary motor neuropathy Jerash type, distal hereditary motor neuropathy, Jerash type, hereditary motor neuropathy, Jerash type, motor neuropathy, distal, Jerash type, neuronopathy, distal hereditary motor, Jerash type, neuropathy, distal hereditary motor, Jerash type, spinal muscular atrophy Jerash type, spinal muscular atrophy, Jerash type, spinal muscular atrophy, distal, autosomal recessive, 2, spinal muscular atrophy, distal, autosomal recessive, type 2

autosomal recessive early-onset Parkinson disease 23

Also known as: PARK23, Parkinson disease 23, autosomal recessive early-onset, Parkinson disease 23, autosomal recessive, early onset, VPS13C young-onset Parkinson disease, autosomal recessive early-onset Parkinson disease 23, autosomal recessive early-onset Parkinson's disease 23, autosomal recessive early-onset Parksinson disease type 23, young-onset Parkinson disease caused by mutation in VPS13C

autosomal recessive epidermolytic ichthyosis

Also known as: AREI

autosomal recessive extra-oral halitosis