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GENATLAS PHENOTYPE
last update : 08-10-2013
Symbol SPG49
Location 14q32;31
HGNC id 19957
Name Hereditary Spastic Paraparesis Type 49
Corresponding gene TECPR2
Main clinical features
  • infantile onset hypotonia, developmental delay with severe cognitive impairment, dysmorphic features (short stature, brady-microcephaly, oral, facial, dental, nuchal abnormalities)
  • spastic paraparesis motor and cognitive delay accompanied by moderate to severe intellectual disability, fluctuating central hypoventilation, areflexia, hypotonia and developmental delay PMID:23176824
  • short stature, mild brachycephalic microcephaly, round face, low anterior hairline, dental crowding, short broad neck, and chubby appearance PMID:23176824
  • recurrent pulmonary infections due to gastresophageal-reflux disease PMID:23176824
  • central-apnea episodes during sleep and evolved with age into the wake state PMID:23176824
  • thin corpus callosum, and cerebellar atrophy (mainly vermian) PMID:23176824
    • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene product
    Name tectonin beta-propeller repeat containing 2
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein c.3416delT, p.Leu1139Argfs∗75 the mutated protein is targeted for proteasome degradation PMID:23176824
    Remark(s)