Distal deletion 12p

Orpha code: 280325OMIM code:

Definicja

A rare partial autosomal monosomy characterized by language development delay with childhood apraxia of speech, mild intellectual disability, behavourial abnormalities (autistic spectrum disorder, attention deficit hyperactivity disorder, anxiety) and mildly dysmorphic nonspecific features. Additional clinical features may include muscular hypotonia and joint laxity, hernias and microcephaly.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
12p13.33 microdeletion syndrome
Del(12)(p13.33)
Delecja dystalna 12p
Zespół mikrodelecji 12p13.33
Del(12)(p13.33)
Delecja telomerowa 12p
Distal monosomy 12p
Kod ORPHA
280325
Kod OMIM
-
Kod ICD10
Q93.5
Kod ICD11
-

No additional description.

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