Rare Disease Library

Leber hereditary optic neuropathy

LHON · Leber optic atrophy

MME-related autosomal dominant Charcot Marie Tooth disease type 2

MME-related autosomal dominant CMT2 · MME-related autosomal dominant hereditary motor and sensory neuropathy type 2

Mutilating hereditary sensory neuropathy with spastic paraplegia

Mutilating HSAN with spastic paraplegia

OBSOLETE: Hereditary motor and sensory neuropathy

OBSOLETE: HMSN

OBSOLETE: X-linked recessive hereditary axonal motor and sensory neuropathy

Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome

Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome

PMP2-related Charcot-Marie-Tooth disease type 1

PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1

PrP systemic amyloidosis

Prion protein systemic amyloidosis · Chronic diarrhea with hereditary sensory and autonomic neuropathy

Spinal muscular atrophy with respiratory distress type 1

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

Syndromic hereditary optic neuropathy

X-linked Charcot-Marie-Tooth disease

CMTX · X-linked hereditary motor and sensory neuropathy

X-linked distal spinal muscular atrophy type 3

ATP7A-related distal motor neuropathy · DSMAX

X-linked hereditary sensory and autonomic neuropathy with deafness

X-linked HSAN with deafness · X-linked auditory neuropathy with peripheral sensory neuropathy type 1