Mowat-Wilson syndrome due to a ZEB2 point mutation
Mowat-Wilson syndrome due to a ZEB2 point mutation is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Mowat-Wilson syndrome due to a ZEB2 point mutation
The following symptoms have been associated with Mowat-Wilson syndrome due to a ZEB2 point mutation in medical literature. Not everyone experiences the same symptoms.
Atypical absence seizure
An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption...
Constipation
Infrequent or difficult evacuation of feces....
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Dysphagia
Difficulty in swallowing....
Episodic vomiting
Paroxysmal, recurrent episodes of vomiting....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Focal-onset seizure
A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be ...
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....
Urinary incontinence
Loss of the ability to control the urinary bladder leading to involuntary urination....
Tests used to investigate Mowat-Wilson syndrome due to a ZEB2 point mutation
Healthcare providers may order these tests when evaluating Mowat-Wilson syndrome due to a ZEB2 point mutation. 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 ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Mowat-Wilson syndrome due to a ZEB2 point mutation, which is why a clinical evaluation is important.
1p36 deletion syndrome
1p36 deletion syndrome is a medical condition that may be associated with various symptoms and signs....
Mowat-Wilson syndrome
Mowat-Wilson syndrome is a medical condition that may be associated with various symptoms and signs....
Mowat-Wilson syndrome due to monosomy 2q22
Mowat-Wilson syndrome due to monosomy 2q22 is a medical condition that may be associated with various symptoms...
Xia-Gibbs syndrome
Xia-Gibbs syndrome is a medical condition that may be associated with various symptoms and signs....
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is a medical condition that may...
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures is a medical condition t...
Frequently Asked Questions
What is Mowat-Wilson syndrome due to a ZEB2 point mutation?
Mowat-Wilson syndrome due to a ZEB2 point mutation is a health condition described in medical literature. Mowat-Wilson syndrome due to a ZEB2 point mutation is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Mowat-Wilson syndrome due to a ZEB2 point mutation?
Mowat-Wilson syndrome due to a ZEB2 point mutation is associated with 10 symptoms in the medical literature we index, including Atypical absence seizure, Constipation, Deeply set eye, Dysphagia, Episodic vomiting, Failure to thrive. Symptoms vary widely between individuals.
How is Mowat-Wilson syndrome due to a ZEB2 point mutation diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Mowat-Wilson syndrome due to a ZEB2 point mutation include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. 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 Mowat-Wilson syndrome due to a ZEB2 point mutation, please discuss your symptoms with a qualified healthcare provider.