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GENATLAS PHENOTYPE

last update : 08-12-2021

Symbol	MCAND
Location	Xp11.23
Name	multiple congenital anomalies-neurodevelopmental syndrome
Corresponding gene	OTUD5
Main clinical features	developmental delay, hypotonia, short stature, and distinctive facial features, such as telecanthus and a depressed nasal bridge variable abnormalities of the cardiac, skeletal, and genitourinary systems brain imaging typically shows enlarged ventricles and thin corpus callosum severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade
Genetic determination	sex linked
Function/system disorder	mental retardation
	neurology
Type	disease

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