Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties (NEDRIHF)(MRD31)

What is Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties (NEDRIHF)(MRD31)?

Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties is a rare neurodevelopmental condition.

The main symptoms include intellectual disability, a severe developmental delay that can present as early as infancy, and seizures. Symptoms usually present in affected individuals in infancy.

Formerly known as: Mental Retardation, Autosomal Dominant 31, Formerly, MRD31

What gene changes cause Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties (NEDRIHF)(MRD31)?

Mutations in the PURA gene cause the syndrome.

It is inherited in an autosomal dominant pattern.

What are the main symptoms of Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties (NEDRIHF)(MRD31)?

The main symptoms of this syndrome are intellectual disability and development delay. Adaptive behavior is particularly affected and may be lacking or underdeveloped.

Low muscle tone in infancy is also characteristic of the condition.

Seizures are another main symptom of the syndrome, including epilepsy.

Possible clinical traits/features:
Feeding difficulties in infancy, Respiratory failure, Delayed myelination, Prominent forehead, Telecanthus, Strabismus, Seizure, Nystagmus, Open mouth, Global developmental delay, High palate, CNS hypomyelination, Absent speech, Broad-based gait, Myopathic facies, Muscular hypotonia, Myoclonus.

How is it diagnosed?

To find out if someone has a diagnosis of Neurodevelopmental Disorder with Neonatal Respiratory Insufficiency, Hypotonia, and Feeding Difficulties (NEDRIHF)(MRD31), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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