Autosomal recessive nonsyndromic hearing loss 1A is a genetic type of hearing loss that affects the inner ear, especially a part called the cochlea. “Autosomal ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
SYNE1-related arthrogryposis multiplex congenita is a rare, inherited, muscle-based condition where a baby is born with stiff joints (contractures) in multiple ...
Autosomal recessive myogenic arthrogryposis multiplex congenita is a rare, inherited condition in which a baby is born with stiff joints in two or more body ...
Multiple pterygium syndrome (MPS) is a rare genetic condition that a baby is born with. The most noticeable signs are soft-tissue “webs” of skin (called ...
Escobar variant multiple pterygium syndrome is a rare, inherited condition that starts before birth. Babies develop webbing of the skin (pterygia) across large ...
Autosomal recessive non-lethal multiple pterygium syndrome is a rare condition present from birth. “Pterygium” means web-like folds of skin. In this condition, ...
Autosomal recessive multiple pterygium syndrome (AR-MPS) is a rare, inherited condition present from birth. Children are born with pterygia, which are thin ...
TRAPPC11-related limb-girdle muscular dystrophy R18 is a rare, genetic muscle disease. It mainly weakens the muscles of the hips and shoulders (the ...
TRAPPC11 autosomal recessive limb-girdle muscular dystrophy is a genetic muscle disease. It mainly weakens the hip and shoulder (limb-girdle) muscles. The ...
Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a rare, inherited muscle disease. It causes slow, progressive weakness of the muscles ...
TRAPPC11-related limb-girdle muscular dystrophy is a genetic muscle disease. It mainly weakens the muscles around the hips and shoulders (the “limb girdles”). ...
Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a rare, inherited muscle disease. It mainly weakens the hips, thighs, shoulders, and ...
Autosomal recessive limb-girdle muscular dystrophy type R18 (LGMDR18) is a rare, inherited muscle disease. “Limb-girdle” means it mainly affects muscles around ...
Muscular dystrophy with progressive weakness, distal contractures, and a rigid spine is a group of inherited muscle diseases that start in childhood. The main ...
Autosomal recessive muscular dystrophy due to torsin-1A-interacting protein-1 (TOR1AIP1/LAP1) deficiency is a rare inherited muscle disease. It mainly weakens ...
Autosomal recessive muscular dystrophy due to LAP1B (lamin-associated protein-1B) deficiency is a rare, inherited muscle disease. It happens when both copies ...
Autosomal Recessive Limb-Girdle Muscular Dystrophy Caused by Mutations in TOR1AIP1 is a rare, inherited muscle disease. It weakens the muscles around the hips ...
Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a very rare, inherited muscle disease. It mainly weakens the large muscles around the ...
Blood Vessel Epicardial Substance (BVES)–related Limb-Girdle Muscular Dystrophy is a rare, inherited muscle disease caused by changes (variants) in a gene once ...
Autosomal recessive limb-girdle muscular dystrophy–cardiac arrhythmia syndrome is a rare inherited disease. It weakens the muscles around the hips and ...
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