HNRNPDL-related limb-girdle muscular dystrophy is a rare, inherited muscle disease that causes slow, progressive weakness of the muscles around the hips, ...
Dr. Reem Saadeh Haddad, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Autosomal dominant limb-girdle muscular dystrophy caused by pathogenic variants in HNRNPDL (LGMD-D3 / formerly LGMD1G) is a rare, inherited muscle disease that ...
Autosomal dominant limb-girdle muscular dystrophy type 1G is a rare, inherited muscle disease. It mainly weakens the muscles around the hips and shoulders (the ...
Limb-Girdle Muscular Dystrophy Type 1F (LGMD1F) is a rare, inherited muscle disease that mainly weakens the hip and shoulder muscles (the “limb girdles”). It’s ...
Autosomal Dominant Limb-Girdle Muscular Dystrophy type 1F (LGMD1F) is a rare, inherited muscle disease that mainly weakens the muscles around the hips and ...
Autosomal dominant limb-girdle muscular dystrophy with rimmed vacuoles caused by DNAJB6 mutations (often called LGMDD1 or DNAJB6-related LGMD) is a hereditary ...
Autosomal dominant limb-girdle muscular dystrophy type 1D due to DNAJB6 is a genetic muscle disease. It usually begins in adulthood. It causes slowly worsening ...
Autosomal dominant lamellar ichthyosis (ADLI) is a rare inherited skin disorder. It causes large, plate-like scales on much of the body from birth or early ...
Autosomal dominant keratitis (also called hereditary keratitis) is a rare, inherited eye disorder that runs in families. It usually starts in childhood and ...
Autosomal dominant Kenny-Caffey syndrome (often shortened to KCS type 2 or KCS2) is a very rare genetic bone and endocrine condition. People with KCS2 are ...
Autosomal dominant isolated somatotropin deficiency is a genetic condition in which the pituitary gland makes too little growth hormone (GH) even though other ...
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain is a rare, inherited nerve disorder. “Autosomal dominant” means a single ...
Intermediate Charcot-Marie-Tooth disease is a genetic nerve disorder that mainly affects the long nerves of the legs, feet, hands, and arms. It causes slowly ...
Autosomal dominant intermediate Charcot-Marie-Tooth disease (CMT-DI) is an inherited nerve disorder that slowly damages the long peripheral nerves supplying ...
KAT6A syndrome is a rare, autosomal-dominant neurodevelopmental disorder caused by harmful (pathogenic) changes in the KAT6A gene, which encodes a histone ...
Autosomal Dominant Intellectual Disability 32 (ADID-32) is a rare, genetic neurodevelopmental condition caused by changes (variants or “spelling mistakes”) in ...
Arboleda-Tham syndrome is a rare genetic condition that affects brain development, learning, speech, growth, facial features, and several organs such as the ...
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a lifelong condition that affects brain development, facial ...
Hypophosphatemia means the level of phosphate (also called phosphorus, measured as inorganic phosphate in blood) is below the normal range. In most adults, ...
Autosomal dominant hypophosphatemia is a rare, inherited problem where the body loses too much phosphate in the urine. Phosphate is a mineral your bones and ...
