VLDLR-associated cerebellar hypoplasia - significado y definición. Qué es VLDLR-associated cerebellar hypoplasia
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Qué (quién) es VLDLR-associated cerebellar hypoplasia - definición


VLDLR-associated cerebellar hypoplasia         
DYSEQUILIBRIUM SYNDROME (DES) IS A NON-PROGRESSIVE CEREBELLAR DISORDER CHARACTERIZED BY ATAXIA ASSOCIATED WITH AN INTELLECTUAL DISABILITY, DELAYED AMBULATION AND CEREBELLAR HYPOPLASIA
VLDLRCH; Nonprogressive cerebellar disorder with mental retardation; Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1
VLDLR-associated cerebellar hypoplasia (VLDLRCH) is a rare autosomal recessive condition caused by a disruption of the VLDLR gene. First described as a form of cerebral palsy in the 1970s,Sanner, G.
X-linked adrenal hypoplasia congenita         
ADRENAL CORTICAL HYPOFUNCTION THAT IS CHARACTERIZED BY A REDUCTION IN ADRENAL GLAND FUNCTION RESULTING FROM INCOMPLETE DEVELOPMENT OF THE ADRENAL CORTEX AND HAS MATERIAL BASIS IN THE NUCLEAR RECEPTOR NR0B1 (DAX1) GENE
Adrenal hypoplasia congenita; Congenital adrenal hypoplasia; X-linked AHC; Adrenal hypoplasia; Adrenal hypoplasia congenital, X-linked
X-linked adrenal hypoplasia congenita is a genetic disorder that mainly affects males. It involves many endocrine tissues in the body, especially the adrenal glands.
Cerebellar ataxia         
  • A male with gluten ataxia: previous situation and evolution after 3 months of gluten-free diet.
CEREBELLAR DISEASE CHARACTERIZED BY ATAXIA ORIGINATING IN THE CEREBELLUM.
Cerebellar ataxias; Decomposition of movement
Cerebellar ataxia is a form of ataxia originating in the cerebellum. Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias.