GAND disease, also known as GATAD2B-associated neurodevelopmental syndrome, is characterized by a range of symptoms, primarily affecting neurological development. These symptoms can vary in severity from person to person.
The key symptoms of GAND disease include:
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Intellectual Disability (ID): This is a core feature, with varying degrees of cognitive impairment.
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Infantile Hypotonia: Low muscle tone is often present from infancy, which can cause developmental delays.
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Apraxia of Speech: Difficulty with motor planning for speech, making it hard to produce understandable speech.
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Epilepsy: Seizures can occur in some individuals with GAND disease.
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Macrocephaly: An abnormally large head size is frequently observed.
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Distinct Facial Features: These can include a broad forehead, widely spaced eyes (hypertelorism), a flattened nasal bridge, and a prominent chin.
Here's a table summarizing the common symptoms:
| Symptom | Description |
|---|---|
| Intellectual Disability | Varying degrees of cognitive impairment |
| Infantile Hypotonia | Low muscle tone from infancy |
| Apraxia of Speech | Difficulty planning and coordinating movements for speech |
| Epilepsy | Occurrence of seizures |
| Macrocephaly | Abnormally large head size |
| Distinct Facial Features | Broad forehead, hypertelorism, flattened nasal bridge, prominent chin, etc. |
It's important to note that the presence and severity of these symptoms can differ significantly among individuals with GAND disease. Diagnosis typically involves genetic testing to identify variants in the GATAD2B gene.
