Rare Disease Library

Rare autosomal recessive non-syndromic sensorineural deafness type DFNB

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

Autosomal recessive cutis laxa type 2, classic type

ARCL2, Debré type · ARCL2, classic type

Autosomal recessive distal renal tubular acidosis with deafness

AR dRTA with deafness · AR dRTA with hearing loss

Autosomal recessive hereditary sensory and autonomic neuropathy

Autosomal recessive isolated optic atrophy

Autosomal recessive non-syndromic optic atrophy

Fukutin-related limb-girdle muscular dystrophy R13

LGMD2M · Autosomal recessive limb-girdle muscular dystrophy type 2M

Hereditary sensory and autonomic neuropathy type 2

Autosomal recessive sensory radicular neuropathy · HSAN2

Osteopetrosis-hypogammaglobulinemia syndrome

Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia · Autosomal recessive osteopetrosis type 7

Rare autosomal dominant non-syndromic sensorineural deafness type DFNA

Autosomal dominant isolated neurosensory deafness type DFNA · Autosomal dominant isolated neurosensory hearing loss type DFNA

Rare mitochondrial non-syndromic sensorineural deafness

Isolated mitochondrial neurosensory deafness · Isolated mitochondrial sensorineural deafness

Rare X-linked non-syndromic sensorineural deafness type DFN

X-linked isolated neurosensory deafness type DFN · X-linked isolated neurosensory hearing loss type DFN