Bietti crystalline retinopathy (BCR)—also called Bietti crystalline corneoretinal dystrophy—is a rare, inherited eye disease. Tiny yellow-white crystals and ...
Dr. Huma Q. Rana, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Bietti crystalline corneoretinal dystrophy is a rare, inherited eye disease. Tiny yellow-white crystals made of lipids (fats) collect in the retina and ...
Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome is a very rare, inherited condition reported only in a small number of people. It affects ...
Biemond syndrome type 2 is the name given to a very rare condition reported in a small number of people. Doctors described a group of patients who had a ...
Tetrahydrobiopterin-deficient hyperphenylalaninemia due to PTS deficiency is a rare, inherited condition where the body cannot make enough tetrahydrobiopterin ...
Hyperphenylalaninemia due to 6-Pyruvoyltetrahydropterin Synthase (PTPS) Deficiency is a rare genetic problem where the body cannot make enough ...
bh4-deficient hyperphenylalaninemia type a happens when the body cannot make enough tetrahydrobiopterin (BH₄). BH₄ is a natural helper molecule (cofactor) that ...
6-Pyruvoyl-Tetrahydropterin Synthase (PTPS) Deficiency is a rare, inherited metabolic disorder. It belongs to a small group of conditions called ...
6-Pyruvoyl-Tetrahydrobiopterin Synthase (PTPS) Deficiency is a rare genetic condition that reduces the body’s supply of tetrahydrobiopterin (BH4). BH4 is a ...
BH4-deficient hyperphenylalaninemia A is a rare inherited condition in which the body cannot make enough of a helper molecule called tetrahydrobiopterin (BH4). ...
Benign congenital muscular dystrophies (CMDs)—genetic muscle disorders present from birth, such as LAMA2-related (merosin-deficient), collagen VI–related ...
Benign autosomal dominant myopathy is a hereditary muscle condition. Most people inherit one changed copy of a collagen-VI gene from a parent (autosomal ...
Bethlem myopathy is a rare, inherited muscle and connective-tissue condition. It causes slow-getting-worse (progressive) muscle weakness, early tight joints ...
Beta-alanine synthase deficiency is a very rare, inherited problem with breaking down the DNA/RNA building blocks called pyrimidines. Because one step in this ...
Beta-ureidopropionase deficiency is a very rare, inherited disorder of pyrimidine breakdown (the pathway the body uses to clear the building blocks of DNA and ...
Thrombocytopenia with X-linked recessive beta-thalassemia is a rare, inherited blood disorder that affects two blood cell lines at the same time: platelets ...
Beta-thalassemia–X-linked thrombocytopenia syndrome is a rare, inherited blood disorder that mainly affects boys and men. It happens when a gene on the X ...
Peroxisomal thiolase deficiency (historical label) was used for a suspected single-enzyme defect of the peroxisome pathway (enzyme: peroxisomal 3-ketoacyl-CoA ...
Mitochondrial acetoacetyl-coenzyme A thiolase deficiency is a rare, inherited problem with body chemistry. The body cannot properly break down the amino acid ...
Mitochondrial 2-methylacetoacetyl-CoA thiolase (ACAT1) deficiency—also called beta-ketothiolase (BKT) deficiency and sometimes described in older literature as ...
