neurodevelopmental disorder with variable familial hypercholanemia
neurodevelopmental disorder with variable familial hypercholanemia is a medical condition that may be associated with various symptoms and signs.
Category: General
Symptoms associated with neurodevelopmental disorder with variable familial hypercholanemia
The following symptoms have been associated with neurodevelopmental disorder with variable familial hypercholanemia in medical literature. Not everyone experiences the same symptoms.
Chronic diarrhea
The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks....
Deeply set eye
An eye that is more deeply recessed into the plane of the face than is typical....
Failure to thrive
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Muscle weakness
Reduced strength of muscles....
Myoclonic seizure
A myoclonic seizure is a type of motor seizure characterized by sudden, brief (<100 ms) involuntary single or ...
Prolonged neonatal jaundice
Neonatal jaundice refers to a yellowing of the skin and other tissues of a newborn infant as a result of incre...
Pruritus
Pruritus is an itch or a sensation that makes a person want to scratch. This term refers to an abnormally incr...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tests used to investigate neurodevelopmental disorder with variable familial hypercholanemia
Healthcare providers may order these tests when evaluating neurodevelopmental disorder with variable familial hypercholanemia. 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...
Folate
Measures folate levels to help evaluate anemia and pregnancy health....
Vitamin B12
Detects B12 deficiency which can cause anemia and neurological symptoms....
Conditions with overlapping symptoms
These conditions share symptoms with neurodevelopmental disorder with variable familial hypercholanemia, which is why a clinical evaluation is important.
Dursun-Ozgul neurodevelopmental syndrome
Dursun-Ozgul neurodevelopmental syndrome is a medical condition that may be associated with various symptoms a...
Houge-Janssens syndrome 4
Houge-Janssens syndrome 4 is a medical condition that may be associated with various symptoms and signs....
Idiopathic hypereosinophilic syndrome
Idiopathic hypereosinophilic syndrome is a medical condition that may be associated with various symptoms and ...
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
mitochondrial DNA depletion syndrome 6 (hepatocerebral type) is a medical condition that may be associated wit...
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities is a medical condition that may...
Frequently Asked Questions
What is neurodevelopmental disorder with variable familial hypercholanemia?
neurodevelopmental disorder with variable familial hypercholanemia is a health condition described in medical literature. neurodevelopmental disorder with variable familial hypercholanemia is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of neurodevelopmental disorder with variable familial hypercholanemia?
neurodevelopmental disorder with variable familial hypercholanemia is associated with 9 symptoms in the medical literature we index, including Chronic diarrhea, Deeply set eye, Failure to thrive, Gastroesophageal reflux, Muscle weakness, Myoclonic seizure. Symptoms vary widely between individuals.
How is neurodevelopmental disorder with variable familial hypercholanemia diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with neurodevelopmental disorder with variable familial hypercholanemia include CBC with Differential, Ferritin, Folate, Iron Panel, Vitamin B12. 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 variable familial hypercholanemia, please discuss your symptoms with a qualified healthcare provider.