13q12.3 microdeletion syndrome

Orpha code: 412035OMIM code:

Definicja

13q12.3 microdeletion syndrome is a rare chromosomal anomaly characterized by moderate intellectual disability, speech delay, postnatal microcephaly, eczema or atopic dermatitis, characteristic facial features (malar flattening, prominent nose, underdeveloped alae nasi, smooth philtrum, and thin vermillion of the upper lip), and reduced sensitivity to pain.

Disease data
Klasyfikacja

Malformation syndrome

Synonimy
Del(13)(q12.3)
Del(13)(q12.3)
Monosomia 13q12.3
Monosomy 13q12.3
Kod ORPHA
412035
Kod OMIM
-
Kod ICD10
Q93.5
Kod ICD11
-

No additional description.

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