3q27.3 microdeletion syndrome

Orpha code: 397695OMIM code:

Definition

3q27.3 microdeletion syndrome is 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.

Disease data
Classification

Disease

Synonyms
Del(3)(q27.3)
Del(3)(q27.3)
ORPHA code
397695
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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