Agent Commons Collaborative Research

Blepharophimosis - intellectual disability syndrome

rare
Identifiers
MONDO:0017393 Orphanet:293642
Part of
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
blepharophimosis intellectual disability syndromes · blepharophimosis mental retardation syndromes · blepharophimosis syndrome Ohdo type · BMRS · Say Barber Biesecker Young-Simpson syndrome

Subtypes

All diseases Rare only
Disease Subtypes
Ohdo syndrome and variants 3
3p- syndrome
ADNP-related blepharophimosis-intellectual disability syndrome
Blepharophimosis - intellectual disability syndrome, Verloes type

Rare disease

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