microcephaly, epilepsy, and diabetes syndrome 1
microcephaly, epilepsy, and diabetes syndrome 1 is a medical condition that may be associated with various symptoms and signs.
Also known as: microcephaly, epilepsy, and diabetes syndrome, MEDS1, primary microcephaly-epilepsy-permanent neonatal diabetes syndrome.
Category: General
Symptoms associated with microcephaly, epilepsy, and diabetes syndrome 1
The following symptoms have been associated with microcephaly, epilepsy, and diabetes syndrome 1 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...
Bilateral tonic-clonic seizure with focal onset
A bilateral tonic-clonic seizure with focal onset is a focal-onset seizure which progresses into a bilateral t...
Generalized myoclonic seizure
A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, bri...
Generalized-onset seizure
A generalized-onset seizure is a type of seizure originating at some point within, and rapidly engaging, bilat...
Jaundice
Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentra...
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 ...
Tests used to investigate microcephaly, epilepsy, and diabetes syndrome 1
Healthcare providers may order these tests when evaluating microcephaly, epilepsy, and diabetes syndrome 1. 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 ...
Fasting Glucose
Measures blood sugar after fasting to screen for diabetes and prediabetes....
Hemoglobin A1c (HbA1c)
Reflects average blood sugar over the past 2-3 months....
Conditions with overlapping symptoms
These conditions share symptoms with microcephaly, epilepsy, and diabetes syndrome 1, which is why a clinical evaluation is important.
Kleefstra syndrome 1
An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant m...
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...
developmental and epileptic encephalopathy, 63
developmental and epileptic encephalopathy, 63 is a medical condition that may be associated with various symp...
multiple congenital anomalies-hypotonia-seizures syndrome 2
Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the diseas...
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 microcephaly, epilepsy, and diabetes syndrome 1?
microcephaly, epilepsy, and diabetes syndrome 1 is a health condition described in medical literature. microcephaly, epilepsy, and diabetes syndrome 1 is a medical condition that may be associated with various symptoms and signs.
What are the symptoms of microcephaly, epilepsy, and diabetes syndrome 1?
microcephaly, epilepsy, and diabetes syndrome 1 is associated with 7 symptoms in the medical literature we index, including Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Generalized myoclonic seizure, Generalized-onset seizure, Jaundice, Myoclonic seizure. Symptoms vary widely between individuals.
How is microcephaly, epilepsy, and diabetes syndrome 1 diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with microcephaly, epilepsy, and diabetes syndrome 1 include CBC with Differential, Comprehensive Metabolic Panel (CMP), Fasting Glucose, Hemoglobin A1c (HbA1c). 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 microcephaly, epilepsy, and diabetes syndrome 1, please discuss your symptoms with a qualified healthcare provider.