NAA10-related syndrome
Ab X-linked syndromic intellectual disability in which the cause of the disease is a mutation in the NAA10 gene. Patients with variants in the NAA10 gene demonstrate symptoms such as developmental delay, intellectual disability, autism spectrum disorder, hypotonia, facial dysmorphism, cardiac anomalies, and/or skeletal anomalies.
MONDO:0020119
X-linked syndromic intellectual disability
is_a
NAA10 X-linked syndromic intellectual disability
exact
NAA10-related syndrome
exact
X-linked syndromic intellectual disability caused by mutation in NAA10
exact
SPAC15E1.08