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GENATLAS PHENOTYPE
last update : 11-09-2018
Symbol MKS12
Location 1q32.1
Name Meckel syndrome 12
Corresponding gene KIF14
Main clinical features
  • oligohydramnios, intrauterine growth retardation with microcephaly, complex brain malformations, and renal anomalies
  • lethal fetal congenital anomaly syndrome
  • prenatal ultrasound showed oligohydramnios, intrauterine growth retardation with microcephaly, complex brain malformations, and renal anomalies
  • Genetic determination autosomal recessive
    Function/system disorder multisystem/generalized
    kidney and urinary tract
    Type disease
    Remark(s)