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Results 1 - 10 of 30 for Neurodevelopmental disorder with hypotonia seizures
  1. PURA syndrome 
    ... of the disorder in their family. PURA-related neurodevelopmental disorder PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Genetic Testing Registry: PURA-related severe ...
    https://medlineplus.gov/genetics/condition/pura-syndrome - Genetics
  2. Proximal 18q deletion syndrome 
    ... speech (expressive language skills) may be delayed. Recurrent seizures (epilepsy) and weak muscle tone (hypotonia) often occur in this disorder. Affected individuals also frequently have neurodevelopmental disorders such as hyperactivity, aggression, and autism spectrum ...
    https://medlineplus.gov/.../condition/proximal-18q-deletion-syndrome - Genetics
  3. GRIN2B gene 
    ... gene have been found to cause GRIN2B-related neurodevelopmental disorder, ... (hypotonia), movement disorders, and behavioral problems.Many GRIN2B gene ...
    https://medlineplus.gov/genetics/gene/grin2b - Genetics
  4. GRIN2B-related neurodevelopmental disorder 
    ... people with this condition have weak muscle tone (hypotonia), which can contribute ... disorder. About one-quarter of affected individuals have features ...
    https://medlineplus.gov/...rin2b-related-neurodevelopmental-disorder - Genetics
  5. CUL3-related neurodevelopmental disorder 
    ... NEDAUS Neurodevelopmental disorder with or without autism or seizures Genetic Testing Registry: Neurodevelopmental disorder with or without autism or seizures National Organization ...
    https://medlineplus.gov/.../cul3-related-neurodevelopmental-disorder - Genetics
  6. Short-chain acyl-CoA dehydrogenase deficiency 
    ... rate (failure to thrive). Other features of this disorder may include poor muscle tone (hypotonia), seizures, developmental delay, and a small head size (microcephaly). ...
    https://medlineplus.gov/...t-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  7. MECP2-related severe neonatal encephalopathy 
    ... a small head size (microcephaly), poor muscle tone (hypotonia) in infancy, movement disorders, rigidity, and seizures. Infants with this condition appear normal at birth ...
    https://medlineplus.gov/...p2-related-severe-neonatal-encephalopathy - Genetics
  8. DLG4-related synaptopathy 
    ... this condition cannot speak. Affected individuals often have neurodevelopmental disorders, such as autism spectrum disorder or attention-deficit/hyperactivity disorder. About half of individuals with this condition have recurrent seizures (epilepsy) that typically begin in childhood. Brain changes ...
    https://medlineplus.gov/genetics/condition/dlg4-related-synaptopathy - Genetics
  9. Peroxisomal acyl-CoA oxidase deficiency 
    Peroxisomal acyl-CoA oxidase deficiency ... eyes (hypertelorism), a low nasal bridge, and low-set ears. Extra fingers or toes ( ...
    https://medlineplus.gov/.../peroxisomal-acyl-coa-oxidase-deficiency - Genetics
  10. Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart 
    ... such as sitting and walking), or autism spectrum disorder, which is a ... problems, and seizures.NEDBEH can affect development of many other parts ...
    https://medlineplus.gov/...thout-anomalies-of-the-brain-eye-or-heart - Genetics
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