multiple congenital anomalies-hypotonia-seizures syndrome 2
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.
Also known as: DEE20, GPIBD4, MCAHS type 2, MCAHS2, PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability, developmental and epileptic encephalopathy 20, epileptic encephalopathy, early infantile, 20, glycosylphosphatidylinositol biosynthesis defect 4, multiple congenital anomalies-hypotonia-seizures syndrome 2, multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive.
Category: General
Symptoms associated with multiple congenital anomalies-hypotonia-seizures syndrome 2
The following symptoms have been associated with multiple congenital anomalies-hypotonia-seizures syndrome 2 in medical literature. Not everyone experiences the same symptoms.
Abdominal distention
Distention of the abdomen....
Abnormality of the philtrum
An abnormality of the philtrum....
Bilateral tonic-clonic seizure
A bilateral tonic-clonic seizure is a seizure defined by a tonic (bilateral increased tone, lasting seconds to...
Edema
An abnormal accumulation of fluid beneath the skin, or in one or more cavities of the body....
Febrile convulsion
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever ...
Focal clonic seizure
A focal clonic seizure is a type of focal motor seizure characterized by sustained rhythmic jerking, that is r...
Focal seizure with eyelid myoclonia
Focal seizure with eyelid myoclonia, not eyelid myoclonias in the context of absence seizures....
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Generalized tonic seizure
A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening ...
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Hearing impairment
A decreased magnitude of the sensory perception of sound....
Moderately reduced visual acuity
Moderate reduction of the ability to see. On the 6m visual acuity scale, moderate reduction is defined as less...
Postural tremor
A type of tremors that is triggered by holding a limb in a fixed position....
Seizure
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence ...
Status epilepticus
Status epilepticus is a type of prolonged seizure resulting either from the failure of the mechanisms responsi...
Tests used to investigate multiple congenital anomalies-hypotonia-seizures syndrome 2
Healthcare providers may order these tests when evaluating multiple congenital anomalies-hypotonia-seizures syndrome 2. 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 multiple congenital anomalies-hypotonia-seizures syndrome 2, which is why a clinical evaluation is important.
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...
developmental and epileptic encephalopathy 119
A developmental and epileptic encephalopathy caused by the variants in the RNU2-2 gene, in which most reported...
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...
neurodevelopmental disorder with speech delay, movement abnormalities, and seizures
A neurodevelopmental disorder caused by a variation in the UNC13A gene, characterized by variable degrees of d...
Frequently Asked Questions
What is multiple congenital anomalies-hypotonia-seizures syndrome 2?
multiple congenital anomalies-hypotonia-seizures syndrome 2 is a health condition described in medical literature. Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene.
What are the symptoms of multiple congenital anomalies-hypotonia-seizures syndrome 2?
multiple congenital anomalies-hypotonia-seizures syndrome 2 is associated with 15 symptoms in the medical literature we index, including Abdominal distention, Abnormality of the philtrum, Bilateral tonic-clonic seizure, Edema, Febrile convulsion, Focal clonic seizure. Symptoms vary widely between individuals.
How is multiple congenital anomalies-hypotonia-seizures syndrome 2 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with multiple congenital anomalies-hypotonia-seizures syndrome 2 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 multiple congenital anomalies-hypotonia-seizures syndrome 2, please discuss your symptoms with a qualified healthcare provider.