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GENATLAS PHENOTYPE
last update : 01-03-2014
Symbol CHQL1
Location 9p24
Name cerebellar hypoplasia and quadrupedal locomotion 1
Other name(s)
  • cerebellar hypoplasia, VLDLR-associated
  • cerebellar disorder, nonprogressive, with mental retardation
  • Unertan syndrome
  • Cerebellar ataxia, mental retardation and dysequilibrium syndrome 1
  • Corresponding gene VLDLR
    Other symbol(s) DES, VLDLRCH, DES-H, CHMRQ1, CAMRQ1
    Main clinical features
  • a form of cerebral palsy characterized by a variety of congenital abnormalities
  • dysarthric speech, mental retardation, and varying degrees of cerebrocerebellar hypoplasia, and, most notably, quadrupedal locomotion
  • vary from predominantly cerebellar syndromes to sensorimotor neuropathology, ophthalmological disturbances, involuntary movements, seizures, cognitive dysfunction, skeletal abnormalities, and cutaneous disorders
  • Genetic determination autosomal recessive
    Related entries . including mental retardation in most cases, disturbed equilibrium with severely retarded motor development, muscular hypotonia, and perceptual abnormalities indicative of widespread brain dysfunction
    Function/system disorder neurology
    Type disease
    Gene product
    Name very low density lipoprotein receptor
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    deletion   truncated protein lacking transmembrane and signaling domains
    Remark(s)