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3q27.3 microdeletion syndrome
rareA 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.
- Identifiers
- MONDO:0018341 Orphanet:397695
- Part of
- Congenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilitySyndrome caused by partial chromosomal deletionSyndromic intellectual disability
- Also known as
- Del(3)(q27.3)
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