Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Growth retardation with developmental delay and facial dysmorphism

Growth retardation, developmental delay, facial dysmorphism is an autosomal recessive disorder caused by mutations of the FTO gene.

Systematic

Syndromic growth retardation
Growth retardation with developmental delay and facial dysmorphism
FTO
Short stature, developmental delay, and congenital heart defects

References:

1.

Boissel S et al. (2009) Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.

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2.

Daoud H et al. (2016) Identification of a pathogenic FTO mutation by next-generation sequencing in a newborn with growth retardation and developmental delay.

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3.

OMIM.ORG article

Omim 612938 [^]
Update: April 29, 2019