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Results 1 - 8 of 8 for Neurodevelopmental disorder with "hypotonia," "microcephaly," seizures
  1. 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).The symptoms of SCAD deficiency may be triggered ...
    https://medlineplus.gov/...t-chain-acyl-coa-dehydrogenase-deficiency - Genetics
  2. MECP2-related severe neonatal encephalopathy 
    ... encephalopathy). Affected males have 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
  3. 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
  4. HIVEP2-related intellectual disability 
    ... affected individuals. Many people with the condition exhibit ... include seizures; recurrent ear infections; and eye disorders, such as ...
    https://medlineplus.gov/.../hivep2-related-intellectual-disability - Genetics
  5. 16p12.2 microdeletion 
    ... ranges from mild to profound, weak muscle tone (hypotonia), slow growth resulting in short stature, an usually small head (microcephaly), malformations of the heart, recurrent seizures (epilepsy), and psychiatric and behavioral problems.Less common ...
    https://medlineplus.gov/genetics/condition/16p122-microdeletion - Genetics
  6. Snijders Blok-Campeau syndrome 
    ... with this condition also have low muscle tone (hypotonia), seizures, or autistic behaviors that affect communication and social ... D. Chromatin Remodeling Complex NuRD in Neurodevelopment and Neurodevelopmental Disorders. Front Genet. 2019 Jul 24;10:682. doi: ...
    https://medlineplus.gov/.../condition/snijders-blok-campeau-syndrome - Genetics
  7. Chromosome 5 
    ... the function of neurons, leading to developmental delay, hypotonia, seizures, and other neurological problems in people with 5q31. ... Xia F. Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. Am ...
    https://medlineplus.gov/genetics/chromosome/5 - Genetics
  8. Vici syndrome 
    ... H. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. Brain. 2016 Mar;139(Pt ... in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement. Sci Rep. 2017 Jun 14; ...
    https://medlineplus.gov/genetics/condition/vici-syndrome - Genetics