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Results 1 - 6 of 6 for Cerebellar dysplasia
  1. TUBB2B gene 
    ... the brain called the cerebellum is particularly affected (cerebellar dysplasia). It is thought that mutations in the TUBB2B ... Bassi MT, Valente EM, Borgatti R. Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation. ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  2. Mainzer-Saldino syndrome 
    ... Saldino disease MZSDS Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia Saldino-Mainzer dysplasia Saldino-Mainzer syndrome Short-rib ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  3. Schimke immuno-osseous dysplasia 
    ... Das AM, Knauth M, Becker H, Donnerstag F. Cerebellar atrophy in Schimke-immuno-osseous dysplasia. Am J Med Genet A. 2007 Sep 1; ...
    https://medlineplus.gov/.../schimke-immuno-osseous-dysplasia - Genetics
  4. Combined pituitary hormone deficiency 
    ... hormone deficiency, combined 1 Short stature-pituitary and cerebellar defects-small sella turcica syndrome ... CPHD4 SEPTOOPTIC DYSPLASIA PITUITARY HORMONE DEFICIENCY, COMBINED OR ISOLATED, 1; CPHD1 ...
    https://medlineplus.gov/.../combined-pituitary-hormone-deficiency - Genetics
  5. Joubert syndrome 
    ... near the back of the brain, including the cerebellar vermis and the brainstem. The molar tooth sign ... X-linked traits to their sons. Agenesis of cerebellar vermis Cerebello-oculo-renal syndrome Cerebellooculorenal syndrome 1 ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  6. Walker-Warburg syndrome 
    ... of the brain, including a region called the cerebellum and the part of the brain that connects ... show signs and symptoms of the condition. Cerebroocular dysplasia-muscular dystrophy syndrome Chemke syndrome COD-MD syndrome ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics