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GENATLAS PHENOTYPE
last update : 06-01-2016
Symbol CSCKT2
Location 18q12.1
Name circumferential skin creases Kunze type syndrome 2
Corresponding gene MAPRE2
Main clinical features craniofacial anomalies, cleft palate, hypoplastic scrotum, inguinal and umbilical hernias, mental retardation, hypertrichosis, and circumferential ringed creases; hypertelorism, small palpebral fissures, and low-set ears with overfolded helices and prominent lobes
Genetic determination not applicable
Function/system disorder connective tissue
ear
mental retardation
dermatology
Type disease
Remark(s)
  • mutant MAPRE2 proteins bind to microtubules with enhanced affinity (PMID: 22637975))
  • homozygous MAPRE2 mutation developed a more severe neurological involvement consisting of severe ID and seizures (PMID: 22637975))