hyperphosphatasia with intellectual disability syndrome 3
Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.
Also known as: PGAP2 hyperphosphatasia-intellectual disability syndrome, hyperphosphatasia with intellectual disability syndrome 3, hyperphosphatasia with intellectual disability syndrome type 3, hyperphosphatasia with mental retardation syndrome 3, hyperphosphatasia with mental retardation syndrome type 3, hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2, HPMRS3, mental retardation, autosomal recessive 17, mental retardation, autosomal recessive 21.
Category: General
Symptoms associated with hyperphosphatasia with intellectual disability syndrome 3
The following symptoms have been associated with hyperphosphatasia with intellectual disability syndrome 3 in medical literature. Not everyone experiences the same symptoms.
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Febrile convulsion
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever ...
Generalized non-motor (absence) seizure
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographical...
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 ...
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 hyperphosphatasia with intellectual disability syndrome 3
Healthcare providers may order these tests when evaluating hyperphosphatasia with intellectual disability syndrome 3. 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 hyperphosphatasia with intellectual disability syndrome 3, which is why a clinical evaluation is important.
Stolerman neurodevelopmental syndrome
Stolerman neurodevelopmental syndrome is a medical condition that may be associated with various symptoms and ...
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome is a medical condition th...
developmental delay with or without epilepsy
developmental delay with or without epilepsy is a medical condition that may be associated with various sympto...
intellectual disability, autosomal dominant 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in...
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...
neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures
An autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early...
Frequently Asked Questions
What is hyperphosphatasia with intellectual disability syndrome 3?
hyperphosphatasia with intellectual disability syndrome 3 is a health condition described in medical literature. Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene.
What are the symptoms of hyperphosphatasia with intellectual disability syndrome 3?
hyperphosphatasia with intellectual disability syndrome 3 is associated with 7 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Febrile convulsion, Generalized non-motor (absence) seizure, Muscle weakness, Myoclonic seizure, Seizure. Symptoms vary widely between individuals.
How is hyperphosphatasia with intellectual disability syndrome 3 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with hyperphosphatasia with intellectual disability syndrome 3 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 hyperphosphatasia with intellectual disability syndrome 3, please discuss your symptoms with a qualified healthcare provider.