Cabezas syndrome
Alternate names
Intellectual disability, X-linked, syndromic 15; CUL4B-related X-linked intellectual disability; X-linked intellectual disability, Cabezas type; Cabezas type of X-linked syndromic intellectual disability
Definition
An X-linked syndromic intellectual disability characterized by developmental delay, intellectual disability with significant speech impairment, and short stature in male patients. Variable additional clinical features have been associated, including macrocephaly, seizures, tremor, gait abnormalities, hypogonadism, truncal obesity, behavioral disturbances and unspecific facial dysmorphism.
NIH genetic and rare disease info
Cabezas syndrome is a rare disease.
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