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GENATLAS PHENOTYPE
last update : 17-10-2018
Symbol MRSFD
Location 14q32.2
Name mental retardation syndromic with facial dysmorphism
Corresponding gene CCNK
Main clinical features
  • syndromic neurodevelopmental disorder with mental retardation
  • craniofacial anomalies like hypertelorism, posteriorly rotated ears
  • severe language delay, facial dysmorphism includes high hairline, thin eyebrows, abnormal ears, broad nasal bridge and tip, thin upper vermilion, and narrow jaw
  • Genetic determination not applicable
    Function/system disorder mental retardation
    other
    Type disease
    Remark(s)