14q24.1q24.3 microdeletion syndrome

Orpha code: 401935OMIM code:

Definition

14q24.1q24.3 microdeletion syndrome is a rare, genetic, syndromic intellectual disability characterized by mild intellectual disability, delayed speech development, congenital heart defects, brachydactyly and dysmorphic facial features.

Disease data
Classification

Malformation syndrome

Synonyms
Del(14)(q24.1q24.3)
Del(14)(q24.1q24.3)
Monosomia 14q24.1q24.3
Monosomy 14q24.1q24.3
ORPHA code
401935
OMIM code
-
ICD10 code
Q93.5
ICD11 code
-

No additional description.

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