Birk-Barel syndrome
Also known as BIRK-Barel intellectual disability dysmorphism syndrome, BIRK-Barel mental retardation dysmorphism syndrome, KCNK9 Imprinting Syndrome, intellectual disability-hypotonia-facial dysmorphism syndrome+5 more
BIRK-Barel intellectual disability dysmorphism syndrome, BIRK-Barel mental retardation dysmorphism syndrome, KCNK9 Imprinting Syndrome, intellectual disability-hypotonia-facial dysmorphism syndrome, Birk Barel intellectual disability dysmorphism syndrome, Birk Barel mental retardation dysmorphism syndrome, intellectual disability with hypotonia and Facial Dysmorphism, intellectual disability, Birk-Barel type, mental retardation with hypotonia and Facial Dysmorphism.
What's happening now
An analyst briefing on current research, clinical, regulatory and industry activity surrounding this disease.
Associated genes
Genes associated with this disease in the canonical knowledge graph (Open Targets evidence). Number shows the association score.
Disease biology
Proteins whose encoding gene is associated with this disease, reached through the canonical gene→disease graph. Number shows the gene's association score.
Reference
Authoritative identity, definition & identifiers.
BIRK-Barel intellectual disability dysmorphism syndrome, BIRK-Barel mental retardation dysmorphism syndrome, KCNK9 Imprinting Syndrome, intellectual disability-hypotonia-facial dysmorphism syndrome, Birk Barel intellectual disability dysmorphism syndrome, Birk Barel mental retardation dysmorphism syndrome, intellectual disability with hypotonia and Facial Dysmorphism, intellectual disability, Birk-Barel type, mental retardation with hypotonia and Facial Dysmorphism
- Disease identity & definition — NLM Medical Subject Headings (MeSH), public domain
- Related entities are derived from literature co-mention (studied together) — associative, not causal.