What is another word for goldberg-shprintzen syndrome?

Pronunciation: [ɡˈə͡ʊldbɜːɡˌɛsˈe͡ɪt͡ʃpɹˈɪntsən sˈɪndɹə͡ʊm] (IPA)

Goldberg-Shprintzen syndrome is a rare genetic disorder that affects the development of the brain and spinal cord. It is also known as Shprintzen-Goldberg syndrome or Marden-Walker-like syndrome. Some of the symptoms associated with this condition include intellectual disability, a small head size, a high forehead, a wide nasal bridge, and a cleft palate. Other possible symptoms may include seizures, scoliosis, and vision problems. Goldberg-Shprintzen syndrome is caused by mutations in the gene known as NALCN, which is responsible for producing a protein that helps to regulate the electrical activity of the brain and nervous system. There is currently no cure for this condition, and treatment primarily involves managing the symptoms.

What are the hypernyms for Goldberg-shprintzen syndrome?

A hypernym is a word with a broad meaning that encompasses more specific words called hyponyms.

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