Rare Disease Library

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

Autosomal dominant distal renal tubular acidosis

AD dRTA

Autosomal dominant proximal renal tubular acidosis

AD pRTA

Autosomal recessive distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy · Autosomal recessive dHMN

Autosomal recessive distal myopathy

Autosomal recessive distal renal tubular acidosis

AR dRTA · Autosomal recessive distal RTA

Autosomal recessive distal renal tubular acidosis without deafness

Distal renal tubular acidosis type 1c · dRTA type 1c

Autosomal recessive lower motor neuron disease with childhood onset

Autosomal recessive distal spinal muscular atrophy type 4 · Distal spinal muscular atrophy type 4

Autosomal recessive proximal renal tubular acidosis

AR pRTA · Proximal renal tubular acidosis with ocular abnormalities and intellectual disability

Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome

SCABD · SCAR3

Distal hereditary motor neuropathy, Jerash type

Autosomal recessive distal spinal muscular atrophy type 2 · dHMNJ

Distal renal tubular acidosis

Classic RTA · Familial distal primary acidosis

Distal renal tubular acidosis with anemia

dRTA with anemia

Distal spinal muscular atrophy type 3

Autosomal recessive distal spinal muscular atrophy type 3 · dHMN3 and dHMN4

DOORS syndrome

Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome · Autosomal recessive deafness-onychodystrophy syndrome

Osteopetrosis with renal tubular acidosis

Carbonic anhydrase 2 deficiency · Guibaud-Vainsel syndrome

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

Autosomal recessive isolated neurosensory hearing loss type DFNB · Autosomal recessive isolated neurosensory deafness type DFNB

Spinal muscular atrophy with respiratory distress type 1

Autosomal recessive distal spinal muscular atrophy type 1 · Autosomal recessive spinal muscular atrophy with respiratory distress

Young adult-onset distal hereditary motor neuropathy

Autosomal recessive distal spinal muscular atrophy type 5 · Young adult-onset dHMN