chromosome 5p13 duplication syndrome
5p13 microduplication syndrome is a rare partial autosomal trisomy/tetrasomy characterized by global developmental delay, intellectual disability, autistic behavior, muscular hypotonia, macrocephaly and facial dysmorphism (frontal bossing, short palpebral fissures, low set, dysplastic ears, short or shallow philtrum, high arched or narrow palate, micrognathia). Other associated clinical features include sleep disturbances, seizures, aplasia/hypoplasia of the corpus callosum, skeletal abnormalities (large hands and feet, long fingers and toes, talipes).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0016942
partial trisomy/tetrasomy of the short arm of chromosome 5
is_a
5p13 microduplication syndrome
exact
chromosome 5p13 duplication syndrome
exact
chromosome 5p13 duplication syndrome, isolated cases
exact
dup(5)(p13)
exact
trisomy 5p13
exact