9p13 microdeletion syndrome

Orpha code: 324313OMIM code:

Definition

9p13 microdeletion syndrome is a rare chromosomal anomaly syndrome, resulting from a partial interstitial deletion of the short arm of chromosome 9, characterized by mild to moderate developmental delay, hand tremors, myoclonic jerks, attention deficit-hyperactivity disorder and a social personality. Patients also present bruxism, short stature and minor facial dysmorphic features (e.g., bilateral epicantic folds, broad, flat nasal bridge, anteverted nares, low-set ears micro/retro-gnathia).

Disease data
Classification

Malformation syndrome

Synonyms
Del(9)(p13)
Del(9)(p13)
Monosomia 9p13
Monosomy 9p13
ORPHA code
324313
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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