neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
A neurodevelopmental syndrome caused by a variation in the UNC13A gene, characterized by hypotonia, epilepsy, and absent speech.
Also known as: UNC13A-related congenital neurodevelopmental disorder with epilepsy.
Category: General
Symptoms associated with neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
The following symptoms have been associated with neurodevelopmental disorder with hypotonia, epilepsy, and absent speech in medical literature. Not everyone experiences the same symptoms.
Cough
A sudden, audible expulsion of air from the lungs through a partially closed glottis, preceded by inhalation....
Dysphagia
Difficulty in swallowing....
Episodic vomiting
Paroxysmal, recurrent episodes of vomiting....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalised tonic-clonic seizure without focal onset
A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characteri...
Generalized muscle weakness
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature....
Poor suck
An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Tests used to investigate neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
Healthcare providers may order these tests when evaluating neurodevelopmental disorder with hypotonia, epilepsy, and absent speech. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Conditions with overlapping symptoms
These conditions share symptoms with neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, which is why a clinical evaluation is important.
Alobar holoprosencephaly
Alobar holoprosencephaly is a medical condition that may be associated with various symptoms and signs....
Congenital myasthenic syndrome
Congenital myasthenic syndrome is a medical condition that may be associated with various symptoms and signs....
Presynaptic congenital myasthenic syndromes
Presynaptic congenital myasthenic syndromes is a medical condition that may be associated with various symptom...
White-Sutton syndrome
White-Sutton syndrome is a medical condition that may be associated with various symptoms and signs....
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
multiple mitochondrial dysfunctions syndrome 9b
A mitochondrial dysfunction syndrome in which the cause of the disease is a mutation in the FDXR gene. It is c...
Frequently Asked Questions
What is neurodevelopmental disorder with hypotonia, epilepsy, and absent speech?
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech is a health condition described in medical literature. A neurodevelopmental syndrome caused by a variation in the UNC13A gene, characterized by hypotonia, epilepsy, and absent speech.
What are the symptoms of neurodevelopmental disorder with hypotonia, epilepsy, and absent speech?
neurodevelopmental disorder with hypotonia, epilepsy, and absent speech is associated with 9 symptoms in the medical literature we index, including Cough, Dysphagia, Episodic vomiting, Gastroesophageal reflux, Generalised tonic-clonic seizure without focal onset, Generalized muscle weakness. Symptoms vary widely between individuals.
How is neurodevelopmental disorder with hypotonia, epilepsy, and absent speech diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with neurodevelopmental disorder with hypotonia, epilepsy, and absent speech include CBC with Differential, Comprehensive Metabolic Panel (CMP). This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, please discuss your symptoms with a qualified healthcare provider.