3q27.3 microdeletion syndrome
A rare chromosomal anomaly syndrome, resulting from the partial deletion of the long arm of chromosome 3, characterized by mild to severe intellectual disability, neuropsychiatric disorders of the psychotic and dysthymic spectrum, mild distinctive facial dysmorphism (incl. slender face, deep-set eyes, high nasal bridge with a hooked nose, small, low- set ears, short philtrum, small mouth with thin upper lip, prognathism) and a marfanoid habitus.
MONDO:0016902
partial deletion of the long arm of chromosome 3
excluded_subClassOf
MONDO:0000508
syndromic intellectual disability
is_a
MONDO:0000761
syndrome caused by partial chromosomal deletion
is_a
MONDO:0002320
congenital nervous system disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
Del(3)(q27.3)
exact