Disease Directory

Beckwith-Wiedemann syndrome due to 11p15 microdeletion is a rare genetic condition. It is recognized as a subtype of Beckwith-Wiedemann syndrome where...

Beckwith-Wiedemann syndrome due to 11p15 microduplication is a rare condition that falls within the spectrum of Beckwith-Wiedemann syndromes. This con...

Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion is a rare subtype of Beckwith-Wiedemann syndrome. Its name indicates that a change in...

Beckwith-Wiedemann syndrome due to CDKN1C mutation is a rare condition that has been recognized in international medical databases such as Orphanet an...

Information about overview is currently limited for this condition.

Information about the overall understanding of Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 is currently limited. This condition is n...

Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 is a rare condition that is recognized as a subtype of Beckwith-Wiedem...

Beemer-Ertbruggen syndrome is a serious condition described as a lethal malformation syndrome. It was initially reported in two brothers born to first...

Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare condition that develops before birth or immediately after birth. It is...

Behcet disease is a chronic, relapsing, multisystemic vasculitis that primarily affects blood vessels and can involve mucocutaneous surfaces, joints,...

Behr syndrome is a disorder that starts in early childhood with a loss of vision due to optic atrophy. People with this condition also experience neur...

Behrens Baumann dust syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

Bencze syndrome, also known as hemifacial hyperplasia with strabismus, is a malformation syndrome. It involves abnormal growth of the facial bones, so...

Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare condition that falls under the group of lipodystrophies. It is marked by a near total abse...

Berk-Tabatznik syndrome is a rare disease. Detailed information about this condition is currently limited in medical literature.

Bernard-Soulier syndrome is an inherited bleeding disorder that affects how platelets stick together to form a clot. It results from changes in one of...

Bernard-Soulier syndrome, type A2, is an inherited bleeding disorder affecting platelet function and size. It is characterized by a mild to moderate b...

Bethlem myopathy is an inherited movement disorder that is usually passed down in an autosomal dominant pattern. It is caused by mutations in genes th...

Bethlem myopathy 1A, also known by names such as Bethlem myopathy, BTHLM1, and benign congenital myopathy with contractures, is a rare condition affec...

Information about the overview of this condition is currently limited for this condition.