Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
The following symptoms have been associated with Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation in medical literature. Not everyone experiences the same symptoms.
Anxiety
Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is...
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
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....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Simple febrile seizure
A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile e...
Typical absence seizure
A typical absence seizure is a type of generalized non-motor (absence) seizure characterized by its sudden ons...
Visual loss
Loss of visual acuity (implying that vision was better at a certain time point in life). Otherwise the term re...
Tests used to investigate Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Healthcare providers may order these tests when evaluating Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC 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 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation, which is why a clinical evaluation is important.
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion is a medical condition that...
Houge-Janssens syndrome 4
Houge-Janssens syndrome 4 is a medical condition that may be associated with various symptoms and signs....
RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characte...
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
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 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation?
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation is a health condition described in medical literature. Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation?
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation is associated with 10 symptoms in the medical literature we index, including Anxiety, Bilateral tonic-clonic seizure, Constipation, Deeply set eye, Dysphagia, Gastroesophageal reflux. Symptoms vary widely between individuals.
How is Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC 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 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation, please discuss your symptoms with a qualified healthcare provider.