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Results 1 - 2 of 2 for Neurodevelopmental disorder with cerebellar hypoplasia spasticity
  1. PNPLA6 gene 
    ... syndrome, and spastic paraplegia type 39. PNPLA6-related disorders feature ... vision, hair abnormalities, hypogonadotropic hypogonadism, and reduced ...
    https://medlineplus.gov/genetics/gene/pnpla6 - Genetics
  2. Boucher-Neuhäuser syndrome 
    ... condition. Ataxia-hypogonadism-choroidal dystrophy syndrome BNHS BNS ... PubMed Deik A, ...
    https://medlineplus.gov/.../condition/boucher-neuhauser-syndrome - Genetics