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GENATLAS PHENOTYPE

last update : 16-09-2020

Symbol	DDGRM
Location	22q12.2
Name	developmental delay, growth retardation, microcephaly
Corresponding gene	MORC2
Main clinical features	intellectual disability, growth retardation, microcephaly, and variable craniofacial dysmorphism; weakness, hyporeflexia, and electrophysiologic abnormalities suggestive of neuropathy were frequently observed but were not the predominant feature facial characteristics often consist of a long face with a narrow jaw, deep set eyes, broad nasal tip, thin upper lip, dental crowding, and high palate also hearing loss was frequent and was progressive, and pigmentary retinopathy
Genetic determination	not applicable
Function/system disorder	ear
	eye
	mental retardation
	neurology
Type	disease

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