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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. FKRP gene 
    ... S, Ray PN, Vajsar J. Eye and brain abnormalities in congenital muscular ... and small cerebellum prompt diagnosis of congenital muscular dystrophy due to ...
    https://medlineplus.gov/genetics/gene/fkrp - Genetics
  4. 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
  5. 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
  6. 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
  7. TUBB2B gene 
    ... halves of the brain (schizencephaly); or other cortical abnormalities. In some affected individuals, a region of the brain called the cerebellum is particularly affected (cerebellar dysplasia). It is thought ...
    https://medlineplus.gov/genetics/gene/tubb2b - Genetics
  8. 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
  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