2q32q33 microdeletion syndrome

Orpha code: 251019OMIM code: 612313

Definition

A rare autosomal monosomy characterized by a variable phenotype with moderate to severe intellectual disability, behavioral problems, short stature, microcephaly, dysplastic nails, sparse hair, cleft palate and dysmorphic craniofacial features.

Disease data
Classification

Malformation syndrome

Synonyms
Del(2)(q32)
Del(2)(q32)
Del(2)(q32q33)
Monosomia 2q32
Monosomia 2q32q33
Monosomia 2q32-q33
Zespół mikrodelecji 2q32-q33
Del(2)(q32q33)
Monosomy 2q32
Monosomy 2q32q33
ORPHA code
251019
OMIM code
612313
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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