📂 Diseases
Helsmoortel-Van Der Aa syndrome — Definition
Helsmoortel-Van Der Aa sendromu / Helsmoortel-Van Der Aa syndrome
Helsmoortel-Van Der Aa syndrome is a rare neurocommunication disorder caused by mutations in ADNP gene. This syndrome manifests itself with otism spectrum disorder, mental disability, speech delay and characteristic facial characteristics. Additional neurological findings such as hypotoni, nutrition difficulties and epilepsy can also be seen in patients.
Frequently Asked Questions
❓ What is Helsmoortel-Van Der Aa sendromu?
Helsmoortel-Van Der Aa sendromu; helsmoortel-Van Der Aa syndrome is a rare neurocommunication disorder caused by mutations in ADNP gene. This syndrome manifests itself with otism spectrum disorder, mental disability, speech delay and characteristic facial characteristics. Additional neurological findings such as hypotoni, nutrition difficulties and epilepsy can also be seen in patients.
❓ What is Helsmoortel-Van Der Aa syndrome in Turkish?
The Turkish equivalent of "Helsmoortel-Van Der Aa syndrome" is Helsmoortel-Van Der Aa sendromu.
❓ Which medical field is Helsmoortel-Van Der Aa sendromu related to?
This term belongs to the Diseases category.