PPFIA3-related neurodevelopmental disorder
A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental delay and intellectual disability. Most patients present variable additional features, including dysmorphisms, microcephaly or macrocephaly, hypotonia, autism spectrum disorder or autistic features, abnormal electroencephalogram, and epilepsy.
Category: General
Symptoms associated with PPFIA3-related neurodevelopmental disorder
The following symptoms have been associated with PPFIA3-related neurodevelopmental disorder 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...
Chronic constipation
Constipation for longer than three months with fewer than 3 bowel movements per week, straining, lumpy or hard...
Constipation
Infrequent or difficult evacuation of feces....
Depression
Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these m...
Dysphagia
Difficulty in swallowing....
Gastroesophageal reflux
A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower...
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
Hematuria
The presence of blood in the urine. Hematuria may be gross hematuria (visible to the naked eye) or microscopic...
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Urinary incontinence
Loss of the ability to control the urinary bladder leading to involuntary urination....
Tests used to investigate PPFIA3-related neurodevelopmental disorder
Healthcare providers may order these tests when evaluating PPFIA3-related neurodevelopmental disorder. 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 PPFIA3-related neurodevelopmental disorder, which is why a clinical evaluation is important.
Acute intermittent porphyria
Acute intermittent porphyria is a medical condition that may be associated with various symptoms and signs....
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia is a medical condition that may be associated with var...
intellectual developmental disorder, autosomal dominant 77
intellectual developmental disorder, autosomal dominant 77 is a medical condition that may be associated with ...
intellectual disability, autosomal dominant 43
Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation i...
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...
syndromic X-linked intellectual disability Lubs type
Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chro...
Frequently Asked Questions
What is PPFIA3-related neurodevelopmental disorder?
PPFIA3-related neurodevelopmental disorder is a health condition described in medical literature. A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by developmental delay and intellectual disability. Most patients present variable additional features, including dysmorphisms, microcephaly or macrocephaly, hypotonia, autism spectrum disorder or autistic features, abnormal electroencephalogram, and epilepsy.
What are the symptoms of PPFIA3-related neurodevelopmental disorder?
PPFIA3-related neurodevelopmental disorder is associated with 11 symptoms in the medical literature we index, including Anxiety, Chronic constipation, Constipation, Depression, Dysphagia, Gastroesophageal reflux. Symptoms vary widely between individuals.
How is PPFIA3-related neurodevelopmental disorder diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with PPFIA3-related neurodevelopmental disorder 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 PPFIA3-related neurodevelopmental disorder, please discuss your symptoms with a qualified healthcare provider.