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Blepharophimosis v0.51 BRPF1 Zornitza Stark Marked gene: BRPF1 as ready
Blepharophimosis v0.51 BRPF1 Zornitza Stark Gene: brpf1 has been classified as Green List (High Evidence).
Blepharophimosis v0.51 BRPF1 Zornitza Stark Classified gene: BRPF1 as Green List (high evidence)
Blepharophimosis v0.51 BRPF1 Zornitza Stark Gene: brpf1 has been classified as Green List (High Evidence).
Blepharophimosis v0.50 BRPF1 Zornitza Stark gene: BRPF1 was added
gene: BRPF1 was added to Blepharophimosis. Sources: Expert Review
Mode of inheritance for gene: BRPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRPF1 were set to 27939640; 27939639
Phenotypes for gene: BRPF1 were set to Intellectual developmental disorder with dysmorphic facies and ptosis, MIM# 617333; MONDO:0015022
Review for gene: BRPF1 was set to GREEN
Added comment: Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant neurodevelopmental disorder characterized by delayed psychomotor development, intellectual disability, delayed language, and dysmorphic facial features, most notably ptosis/blepharophimosis. Additional features may include poor growth, hypotonia, and seizures.

At least 10 unrelated families reported.
Sources: Expert Review