Disease Directory

Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a neuromuscular condition that primarily weakens the muscles of the hips, thigh...

Autosomal recessive limb-girdle muscular dystrophy type 2Q (LGMD2Q) is caused by variants in the PLEC gene, which plays a crucial role in muscle integ...

Autosomal recessive limb-girdle muscular dystrophy type 2R1 is a very rare inherited condition that primarily affects the proximal muscles responsible...

Autosomal recessive limb-girdle muscular dystrophy type 2T (often called LGMD2T) is a very rare neuromuscular disorder that primarily weakens the larg...

Autosomal recessive limb-girdle muscular dystrophy type 2U is a very rare inherited muscle disorder that mainly weakens the large muscles of the hips...

Autosomal recessive limb-girdle muscular dystrophy type 2W (LGMD2W) is characterized by childhood onset of severe, progressive proximal skeletal muscl...

Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare condition characterized by a slowly progressive weakness and atrophy of the proxi...

Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a very rare inherited muscle disorder that weakens the shoulder and hip (limb-g...

Autosomal recessive limb-girdle muscular dystrophy type R18 is a very rare condition that primarily affects the muscles of the hips and shoulders, lea...

Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency is an inherited immune disorder th...

autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency is an extremely rare condition. Because few case...

autosomal recessive metabolic cerebellar ataxia is an extremely rare condition. Because few cases have been documented, detailed clinical information...

Autosomal recessive multiple pterygium syndrome is a rare congenital disorder affecting the musculoskeletal and craniofacial systems. It is characteri...

autosomal recessive myogenic arthrogryposis multiplex congenita is an extremely rare condition. Because few cases have been documented, detailed clini...

Autosomal recessive non-syndromic intellectual disability is an extremely rare condition. Because few cases have been documented, detailed clinical in...

autosomal recessive nonsyndromic congenital nuclear cataract is an extremely rare condition. Because few cases have been documented, detailed clinical...

Autosomal recessive nonsyndromic hearing loss 101 is a genetic condition that primarily affects the auditory system, resulting in hearing impairment....

Autosomal recessive nonsyndromic hearing loss 102 is caused by mutations in the EPS8 gene. This condition is characterized by hearing loss that is not...

Autosomal recessive nonsyndromic hearing loss 103 is a condition characterized by impaired auditory and vestibular function. It is caused by mutations...

Autosomal recessive nonsyndromic hearing loss 104 is a condition characterized predominantly by profound sensorineural hearing impairment that is pres...