The brain abnormalities are usually present at birth, and in some cases they can be detected before birth. [ghr.nlm.nih.gov]

• Clonus

  Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures. [ghr.nlm.nih.gov]

• Chorea

  Affected children typically develop temporary jitteriness (generalized clonus) in early infancy, abnormal patterns of movement described as chorea or dystonia, and stiffness (spasticity). Many also have impaired vision and seizures. [ghr.nlm.nih.gov]

• Neonatal Hypotonia

  Brachycephaly Neonatal hypotonia Poor head control Progressive microcephaly Abnormality of the nervous system Cerebellar atrophy Cerebellar hypoplasia Cerebral atrophy Global developmental delay Hyperreflexia Hypoplasia of the brainstem Hypoplasia of [ncbi.nlm.nih.gov]

Another gene that has been associated with this condition is coenzyme A synthase (COASY).[14] Treatment[edit] This section is empty. You can help by adding to it. [en.wikipedia.org]