Rare Disease Library

Adult-onset progressive leukoencephalopathy-early-onset deafness

Adult-onset progressive leukoencephalopathy-early-onset hearing loss

Adult-onset Steinert myotonic dystrophy

Adult-onset Steinert disease · Adult-onset myotonic dystrophy type 1

Adult-onset Still disease

AOSD · Wissler-Fanconi syndrome

Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome

Syndromic agammaglobulinemia due to FNIP1 deficiency · Syndromic hypogammaglobulinemia due to FNIP1 deficiency

Alpha-B crystallin-related late-onset myopathy

Alpha-B crystallin-related late-onset distal myopathy · Late-onset distal crystallinopathy

Androgen insensitivity syndrome

AIS · Androgen resistance syndrome

Anomaly of puberty or/and menstrual cycle

Anomaly of puberty or/and menstrual cycle of genetic origin

Anophthalmia-hypothalamo-pituitary insufficiency syndrome

14q22 microdeletion syndrome · Al Frayh-Facharzt-Haque syndrome

Anterior segment developmental anomaly with extraocular manifestations

Anterior segment developmental anomaly without extraocular manifestations

Arthrogryposis-like hand anomaly-sensorineural deafness syndrome

Distal arthrogryposis type 6 · Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome

Ataxia-photosensitivity-short stature syndrome

Fenton-Wilkinson-Toselano syndrome

Athabaskan brainstem dysgenesis syndrome

ABSD · Athabascan brainstem dysgenesis syndrome

ATP13A2-related parkinsonism

Atrichia with papular lesions

Papular atrichia

Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome

Atypical juvenile parkinsonism

Autoerythrocyte sensitization syndrome

GDS · Gardner-Diamond syndrome

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ALPS due to CTLA4 haploinsuffiency · CHAI

Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency

CEDS · Caspase 8 deficiency syndrome

Autosomal dominant adult-onset proximal spinal muscular atrophy

Autosomal dominant adult-onset proximal SMA · Autosomal dominant late-onset spinal muscular atrophy, Finkel type

Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons

Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons · CMT2 with giant axons

Autosomal dominant childhood-onset proximal spinal muscular atrophy

Kugelberg-Welander disease · Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy

Autosomal dominant dopa-responsive dystonia

Autosomal dominant Segawa syndrome · DYT5a

Autosomal dominant hereditary axonal motor and sensory neuropathy

Autosomal dominant hereditary demyelinating motor and sensory neuropathy

Autosomal dominant hereditary sensory and autonomic neuropathy

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency · Dominant KATP hyperinsulinism due to Kir6.2 deficiency

Autosomal dominant hyperinsulinism due to SUR1 deficiency

Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency

Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome

Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome

Autosomal dominant progressive nephropathy with hypertension

Autosomal ichthyosis syndrome with other associated signs

Autosomal ichthyosis syndrome with prominent neurologic signs

Autosomal recessive axonal hereditary motor and sensory neuropathy

AR-CMT2 · Autosomal recessive axonal Charcot-Marie-Tooth disease type 2

Autosomal recessive cerebellar ataxia with late-onset spasticity

Autosomal recessive cerebellar ataxia due to GBA2 deficiency

Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome

Autosomal recessive dopa-responsive dystonia

Autosomal recessive Segawa syndrome · DYT5b

Autosomal recessive hereditary demyelinating motor and sensory neuropathy

Autosomal recessive hereditary sensory and autonomic neuropathy

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency

Autosomal recessive hyperinsulinism due to SUR1 deficiency

Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency

Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy

Autosomal recessive lower motor neuron disease with childhood onset

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

Axonal hereditary motor and sensory neuropathy

Axonal HMSN

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion

BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy

BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures · Kugelberg-Welander disease

Bickerstaff brainstem encephalitis