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Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pigmentosa . [ 4 ]
COACH syndrome, also known as Joubert syndrome with hepatic defect, [4] is a rare autosomal recessive genetic disease. The name is an acronym of the defining signs: c erebellar vermis aplasia , o ligophrenia , congenital a taxia , c oloboma and h epatic fibrosis .
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AHI1 specifically encodes the Jouberin protein and mutations in the expression of the gene is known to cause specific forms of Joubert syndrome. Joubert syndrome is autosomal recessive and is characterized by the brain malformations and mental retardation that AHI1 mutations have the potential to induce. [2]
Joubert syndrome [ edit ] JS is defined clinically by features of hypotonia in infancy with later development of ataxia , developmental delays, mental retardation , abnormal breathing patterns, abnormal eye movements specific to oculomotor apraxia , or the presence of the MTS on the cranial MRI .
Gemignani syndrome, a.k.a. spinocerebellar ataxia-amyotrophy-deafness syndrome; Cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, aka spinocerebellar ataxia, autosomal recessive 21 (SCAR21)
Yellow Veil Pictures and Vinegar Syndrome announced have co-acquired North American rights for “Riddle of Fire,” the feature debut of writer and director Weston Razooli. The movie follows ...
Joubert syndrome type 2 is disproportionately frequent among people of Jewish descent; this has been attributed to the resistance to intermarriage of this population. [36] Kaposi's sarcoma [37] Maple syrup urine disease [38] Mucolipidosis IV [39] Myeloproliferative neoplasms including polycythemia vera and essential thrombocythemia [40]