syndromic X-linked intellectual disability Lubs type
Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.
Also known as: Lubs X-linked intellectual disability syndrome, Lubs X-linked mental retardation syndrome, MECP2 duplication syndrome, MRXSL, Xq28 (MECP2) duplication, distal duplication Xq, intellectual developmental disorder, X-linked syndromic, Lubs type, X-linked recessive, intellectual disability, X-linked, syndromic, Lubs type, intellectual disability, X-linked, with recurrent respiratory infections, mental retardation, X-linked, with recurrent respiratory infections.
Category: General
Symptoms associated with syndromic X-linked intellectual disability Lubs type
The following symptoms have been associated with syndromic X-linked intellectual disability Lubs type 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...
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...
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...
Tonic seizure
A tonic seizure is a type of motor seizure characterized by unilateral or bilateral limb stiffening or elevati...
Tests used to investigate syndromic X-linked intellectual disability Lubs type
Healthcare providers may order these tests when evaluating syndromic X-linked intellectual disability Lubs type. 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 syndromic X-linked intellectual disability Lubs type, 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...
PPFIA3-related neurodevelopmental disorder
A neurodevelopmental disorder caused by variation in the PPFIA3 gene. This disorder is characterised by develo...
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 42
Any autosomal dominant intellectual disability in which the cause of the disease is a heterozygous mutation in...
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...
Frequently Asked Questions
What is syndromic X-linked intellectual disability Lubs type?
syndromic X-linked intellectual disability Lubs type is a health condition described in medical literature. Distal Xq duplications refer to chromosomal disorders resulting from involvement of the long arm of the X chromosome (Xq). Clinical manifestations vary widely depending on the gender of the patient and on the gene content of the duplicated segment. The prevalence of Xq duplications remains unknown.
What are the symptoms of syndromic X-linked intellectual disability Lubs type?
syndromic X-linked intellectual disability Lubs type is associated with 9 symptoms in the medical literature we index, including Anxiety, Chronic constipation, Depression, Dysphagia, Gastroesophageal reflux, Generalized non-motor (absence) seizure. Symptoms vary widely between individuals.
How is syndromic X-linked intellectual disability Lubs type diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with syndromic X-linked intellectual disability Lubs type 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 syndromic X-linked intellectual disability Lubs type, please discuss your symptoms with a qualified healthcare provider.