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GENATLAS PHENOTYPE

last update : 01-10-2019

Symbol	NDEDJ
Location	5q35.1
Name	neurodevelopmental disorder with eye, digital, and jaw anomalies
Corresponding gene	FBXW11
Main clinical features	dysmorphic facial features including mild ptosis of the upper eyelids, malar hypoplasia, bifid nasal tip, a thin upper lip, micrognathia, digital anomalies include shortening of the distal phalanx of the thumbs, 5th finger clinodactyly (R–U), thenar hypoplasia bilateral microanterior segments, iris and chorioretinal coloboma, and lens anomalies, retrognathia, mild mental retardation and psychiatric disorder
Genetic determination	not applicable
Function/system disorder	eye
	osteo-articular
	neurology
Type	disease

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