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GENATLAS PHENOTYPE
last update : 08-02-2012
Symbol GPATS
Location 10q22.2
Name Genitopatellar syndrome
Corresponding gene MYST4
Other symbol(s) GPS
Main clinical features
  • skeletal dysplasia with cerebral and genital anomalies
  • hypoplastic or absent patellae, genital anomalies, craniofacial defects, and intellectual disability among other features, mental retardation
  • microcephaly, mild to moderate diffuse cortical atrophy, skeletal features included flat temporal bones, brachydactyly, flexion deformities of the hips and knees, and markedly hypoplastic patellae
  • anal anomalies, hypoplastic labia, clitoromegaly, scrotal hypoplasia, cryptorchidism, congenital heart defects, hydronephrosis
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    mental retardation
    kidney and urinary tract
    neurology
    sex-genitalia
    osteo-articular
    Type disease
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    various types   truncated protein  
    Remark(s)