.PPFIA3-related neurodevelopmental disorder is a rare condition that affects a person’s neurological functioning.
Developmental Delay: Children with this condition may take longer to reach milestones like walking, talking, or learning new things. This is called developmental delay.
Intellectual Disability: Many people with this disorder have trouble with thinking, learning, and understanding at the same level as others their age. This is called an intellectual disability.
Autistic Features: Some individuals may show behaviors seen in autism, such as trouble with social interactions, repetitive behaviors, or sensitivity to certain sounds or textures.
Epilepsy: Some people with this condition may have seizures, which happen when the brain has abnormal electrical activity.
Low Muscle Tone (Hypotonia): People with this condition often have low muscle tone, which means their muscles might feel weak or floppy. This can make it harder to move or hold their body steady.
Dysmorphic Features: Some people may have physical features that look different from other people, such as facial features that are shaped differently.
Dental Anomalies: Dental anomalies mean that a person may have unusual changes in the way their teeth grow or develop. For example, teeth might be spaced differently or come in at different times.
Every person with PPFIA3-related neurodevelopmental disorder is unique, and the symptoms can vary. Some may have mild symptoms, while others may have more challenges. Doctors can help by offering therapies and treatments to manage the symptoms and improve quality of life.
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