3q27.3 microdeletion syndrome

Orpha code: 397695OMIM code:

Definicja

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
Klasyfikacja

Disease

Synonimy
Del(3)(q27.3)
Del(3)(q27.3)
Kod ORPHA
397695
Kod OMIM
-
Kod ICD10
Q93.5
Kod ICD11
-

No additional description.

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