Blepharophimosis-epicanthus inversus-ptosis due to copy number variations is an extremely rare condition. Because few cases have been documented, deta...

Blepharophimosis-impaired intellectual development syndrome is a condition that primarily affects neurological development and specific facial feature...

blepharophimosis - intellectual disability syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical informat...

blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome is an extremely rare condition. Because few cases have been document...

Blepharophimosis-intellectual disability syndrome, MKB type, is an ultra-rare developmental condition that primarily affects the face, eyes, and brain...

Blepharophimosis - intellectual disability syndrome, Ohdo type (OBS) is a rare congenital malformation syndrome characterized by blepharophimosis (nar...

Blepharophimosis-intellectual disability syndrome, SBBYS type is a very rare multisystem developmental disorder that combines distinctive facial featu...

Blepharophimosis - intellectual disability syndrome, Verloes type is an extremely rare condition. Because few cases have been documented, detailed cli...

Blepharophimosis, ptosis, and epicanthus inversus syndrome (BPES) is an ocular condition marked by a distinct constellation of eyelid malformations, i...

Blepharophimosis-ptosis-epicanthus inversus syndrome plus is characterized by a combination of ocular and facial features, including telecanthus, ptos...

blepharophimosis-ptosis-epicanthus inversus syndrome type 1 is an extremely rare condition. Because few cases have been documented, detailed clinical...

blepharophimosis-ptosis-epicanthus inversus syndrome type 2 is an extremely rare condition. Because few cases have been documented, detailed clinical...

Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome is characterized by the presence of blepharophimosis, ptosis, V-esotropia, and wea...

Blepharoptosis-myopia-ectopia lentis syndrome is characterized by bilateral congenital blepharoptosis (drooping of the eyelids), high myopia (severe n...

Blepharospasm-oromandibular dystonia syndrome is an extremely rare condition. Because few cases have been documented, detailed clinical information is...

Blindness - scoliosis - arachnodactyly syndrome is characterized by progressive visual loss, scoliosis or kyphoscoliosis, and arachnodactyly affecting...

Blood coagulation disease is a condition characterized by a deviation from the normal clotting properties of the blood, which can lead to bleeding com...

blood group incompatibility is an extremely rare condition. Because few cases have been documented, detailed clinical information is limited.

Blood platelet disease refers to a group of disorders caused by problems with the count or function of blood platelets, which are important for helpin...

Bloom syndrome is a rare chromosomal breakage syndrome that leads to marked genetic instability. People with this condition often experience growth re...