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Results 11 - 20 of 46 for "Microcephaly," "seizures," developmental delay
  1. Fumarase deficiency 
    ... infants may have an abnormally small head size (microcephaly), abnormal brain ... experience seizures. Some people with this disorder have unusual facial ...
    https://medlineplus.gov/genetics/condition/fumarase-deficiency - Genetics
  2. Epilepsy of infancy with migrating focal seizures 
    ... may become less frequent. In children with EIMFS, seizures can affect the growth of the brain, leading to a small head size (microcephaly). The problems with brain development can also cause significant developmental delays and intellectual disabilities. Many affected individuals do not ...
    https://medlineplus.gov/...-of-infancy-with-migrating-focal-seizures - Genetics
  3. Beta-ureidopropionase deficiency 
    ... ureidopropionase deficiency can have low muscle tone (hypotonia), seizures, ... head size (microcephaly); they may also have brain abnormalities that can ...
    https://medlineplus.gov/.../beta-ureidopropionase-deficiency - Genetics
  4. Microcephaly-capillary malformation syndrome 
    ... malformations).In people with microcephaly-capillary malformation syndrome, ... delay and intellectual impairment. Most affected individuals do not ...
    https://medlineplus.gov/...rocephaly-capillary-malformation-syndrome - Genetics
  5. 16p12.2 microdeletion 
    ... in people with a 16p12.2 microdeletion include developmental delay, delayed ... seizures (epilepsy), and psychiatric and behavioral problems.Less common ...
    https://medlineplus.gov/genetics/condition/16p122-microdeletion - Genetics
  6. Bohring-Opitz syndrome 
    ... Opitz syndrome have profound to severe intellectual disability, ... (microcephaly) and a skull abnormality called trigonocephaly, which gives ...
    https://medlineplus.gov/genetics/condition/bohring-opitz-syndrome - Genetics
  7. Combined malonic and methylmalonic aciduria 
    ... involuntary muscle tensing (dystonia), weak muscle tone (hypotonia), ... problems, such as seizures, loss of memory, a decline in thinking ability, ...
    https://medlineplus.gov/...mbined-malonic-and-methylmalonic-aciduria - Genetics
  8. KCNT1 gene 
    ... group of epileptic disorders that are characterized by developmental delays ... head size (microcephaly). The KCNT1 gene variants that are associated with ...
    https://medlineplus.gov/genetics/gene/kcnt1 - Genetics
  9. Molybdenum cofactor deficiency 
    ... seizures that do not improve with treatment (intractable seizures). Brain ... size (microcephaly) and facial features that are described as "coarse." ...
    https://medlineplus.gov/.../condition/molybdenum-cofactor-deficiency - Genetics
  10. Pitt-Hopkins syndrome 
    ... is a condition characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.People with Pitt- ...
    https://medlineplus.gov/genetics/condition/pitt-hopkins-syndrome - Genetics
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