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Blepharophimosis - intellectual disability syndrome

MONDO:0017393

Also known as: BMRS, SBBYS syndrome, Say Barber Biesecker Young-Simpson syndrome, Young Simpson syndrome, blepharophimosis intellectual disability syndromes, blepharophimosis mental retardation syndromes, blepharophimosis syndrome Ohdo type

4 clinical trials for this condition and its sub-types.

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Sub-types

3p- syndrome (0) ADNP-related blepharophimosis-intellectual disability syndrome (0) Blepharophimosis - intellectual disability syndrome, MKB type (0) Blepharophimosis - intellectual disability syndrome, Ohdo type (0) Blepharophimosis - intellectual disability syndrome, SBBYS type (0) Blepharophimosis - intellectual disability syndrome, Verloes type (0) Ohdo syndrome and variants (0)

Broader categories

Disease (618) Human disease (14) Developmental defect during embryogenesis (7) Multiple congenital anomalies/dysmorphic syndrome (1) Multiple congenital anomalies/dysmorphic syndrome-intellectual disability (1) Disease by developmental or physiological process (0) Disorder of development or morphogenesis (0)
Trials to join now! 2 Completed 2
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