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GENATLAS PHENOTYPE

last update : 14-01-2020

Symbol	DDDFD
Location	22q12.1
Name	developmental delay, dolichocephaly, facial dysmorphism
Corresponding gene	MN1
Main clinical features	severe developmental delay, midface hypoplasia, speech impairment, characteristic facial features (dolichocephaly, a flat face, thick eyebrows, widely spaced eyes, low-set ears, a short nose, and anteverted nares), and hyperphagia at brain MRI, polymicrogyria or not, also an atypical form of rhombencephalosynapsis, a distinctive brain malformation characterized by partial or complete loss of the cerebellar vermis with fusion of the cerebellar hemispheres
Genetic determination	not applicable
Function/system disorder	mental retardation
	osteo-articular
	neurology
Type	disease

Remark(s)

. truncation variants associated were located within the C-terminal ordered region (from Ser1276 to Thr1320), and variants identified would be gain-of-function or dominant-negative mutations rather than loss-of-function mutations (PMID: 31839203))