14q11.2 microdeletion syndrome is a recently described syndrome characterized by developmental delay, hypotonia and facial dysmorphism.
Comprehensive, easy-to-understand information about this condition
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Gene data from MyGene.info • Click to view on NCBI Gene
Frias syndrome
MONDO:0012324
paternal 14q32.2 microdeletion syndrome
MONDO:0016780
14q12 microdeletion syndrome
MONDO:0016833
14q24.1q24.3 microdeletion syndrome
MONDO:0018429
distal monosomy 14q
MONDO:0019898