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Results 1 - 10 of 10 for Congenital cerebellar hypoplasia
  1. Pontocerebellar hypoplasia 
    Pontocerebellar hypoplasia is a group of related conditions that affect the development of the brain. The term "pontocerebellar" refers to the pons and the cerebellum, ...
    https://medlineplus.gov/.../condition/pontocerebellar-hypoplasia - Genetics
  2. Gillespie syndrome 
    Gillespie syndrome is a disorder that involves eye abnormalities, weak muscle tone from birth (congenital hypotonia), problems with balance and coordinating movements ( ...
    https://medlineplus.gov/genetics/condition/gillespie-syndrome - Genetics
  3. Joubert syndrome 
    ... Romani M, Micalizzi A, Valente EM. Joubert syndrome: congenital cerebellar ataxia with the molar tooth. Lancet Neurol. 2013 ...
    https://medlineplus.gov/genetics/condition/joubert-syndrome - Genetics
  4. SLC35A2-congenital disorder of glycosylation 
    ... disorder of glycosylation (SLC35A2-CDG, formerly known as congenital disorder of glycosylation type IIm) is an inherited condition that causes neurological problems and other abnormalities. This disorder's signs and symptoms and their ...
    https://medlineplus.gov/...35a2-congenital-disorder-of-glycosylation - Genetics
  5. Walker-Warburg syndrome 
    ... buildup of fluid in the brain (hydrocephalus) or abnormalities of certain parts of the brain, including a region called the cerebellum and the part of the brain that connects ...
    https://medlineplus.gov/genetics/condition/walker-warburg-syndrome - Genetics
  6. Combined pituitary hormone deficiency 
    ... combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome Pituitary hormone deficiency, combined 1 Short stature-pituitary and cerebellar defects-small sella turcica syndrome National Organization for ...
    https://medlineplus.gov/.../combined-pituitary-hormone-deficiency - Genetics
  7. Anencephaly 
    ... parts of the brain called the cerebrum and cerebellum. These brain regions are ... system abnormalities are so severe, almost all babies with anencephaly ...
    https://medlineplus.gov/genetics/condition/anencephaly - Genetics
  8. Horizontal gaze palsy with progressive scoliosis 
    ... early in life. People with HGPPS have structural abnormalities along the midline ... called the pons and cerebellar peduncles and a notch or cleft in the ...
    https://medlineplus.gov/...tal-gaze-palsy-with-progressive-scoliosis - Genetics
  9. Mainzer-Saldino syndrome 
    ... Saldino disease MZSDS Renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia Saldino-Mainzer dysplasia ... of cone-shaped epiphysis, renal disease in childhood, retinitis pigmentosa and abnormality of the proximal femur. Am J Med Genet ...
    https://medlineplus.gov/genetics/condition/mainzer-saldino-syndrome - Genetics
  10. Charcot-Marie-Tooth disease 
    ... DISEASE, X-LINKED RECESSIVE, 4, WITH OR WITHOUT CEREBELLAR ATAXIA; CMTX4 ... CONGENITAL HYPOMYELINATING, 1, AUTOSOMAL RECESSIVE; CHN1 CHARCOT-MARIE-TOOTH ...
    https://medlineplus.gov/.../condition/charcot-marie-tooth-disease - Genetics