A neurodevelopmental disorder caused by variation in the KDM2B gene. This disorder is characterised by speech delay, developmental delay, learning difficulties, and/or intellectual disability. Patients often present behavioral abnormalities including including autism and attention deficit hyperactivity disorder. Other phenotypic features commonly reported include heart defects, unilateral kidney agenesis, ophthalmological anomalies, broad nasal tip, large ear lobes, and exaggerated Cupid’s bow.
Comprehensive, easy-to-understand information about this condition
Checking for content...
No external resources available.
microcephaly and chorioretinopathy
MONDO:0000181
microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability
MONDO:0007918
autosomal dominant primary microcephaly
MONDO:0007988
Prader-Willi syndrome
MONDO:0008300
Smith-Magenis syndrome
MONDO:0008434
microcephalic osteodysplastic primordial dwarfism type I
MONDO:0008871