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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))