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GENATLAS PHENOTYPE

last update : 01-09-2021

Symbol	NEDFACH
Location	6p25.3
Name	neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
Corresponding gene	EXOC2
Main clinical features	dysmorphic facies and cerebellar hypoplasia characterized by global developmental delay and intellectual disability any affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia
Genetic determination	autosomal recessive
Function/system disorder	mental retardation
	neurology
Type	disease

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