Bryant-Li-Bhoj neurodevelopmental syndrome

Term ID

DOID:0051010

Synonyms

Definition

An autosomal dominant intellectual developmental disorder that is characterized by developmental delay / intellectual disability (typically in the severe range) and nonspecific craniofacial abnormalities. https://www.ncbi.nlm.nih.gov/books/NBK595206/

References

MIM:PS619720

Ontology

Human Disease ( DOID:0051010 )

Relationships

is a type of: autosomal dominant intellectual developmental disorder

autosomal dominant intellectual developmental disorder Show first 5 Terms
has subtype: Bryant-Li-Bhoj neurodevelopmental syndrome 1 Bryant-Li-Bhoj neurodevelopmental syndrome 2

Bryant-Li-Bhoj neurodevelopmental syndrome 1 Bryant-Li-Bhoj neurodevelopmental syndrome 2 Show first 5 Terms

Other Pages

Genes Involved

Zebrafish Models