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Lubs X-linked mental retardation syndrome

An X-linked recessive neurodevelopmental disorder characterized by severe to profound intellectual disability, infantile HYPOTONIA, mild dysmorphic features, poor speech development, AUTISM - like features, SEIZURES, progressive SPASTICITY, and recurrent infections. Only males are affected, although female carriers may have some mild neuropsychiatric features, such as ANXIETY. Caused by copy number variations in the MECP2 gene. OMIM: 300260
Also Known As:
MECP2 Duplication Syndrome; MRXSL; Mental Retardation, X-Linked, With Recurrent Respiratory Infections; Mental retardation, X-linked, Lubs type; Trisomy Xq28; XLMR syndrome, Lubs type
Networked: 39 relevant articles (1 outcomes, 3 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Contracture
2. Rett Syndrome (Rett's Disorder)
3. Brain Diseases (Brain Disorder)
4. CDKL5 deficiency disorder
5. Neurodevelopmental Disorders

Experts

1. Peters, Sarika U: 4 articles (01/2020 - 02/2016)
2. Zoghbi, Huda Y: 3 articles (01/2021 - 05/2018)
3. Gogliotti, Rocco G: 2 articles (01/2022 - 01/2018)
4. Niswender, Colleen M: 2 articles (01/2022 - 01/2018)
5. Vermudez, Sheryl Anne D: 2 articles (01/2022 - 01/2018)
6. Yu, Bin: 2 articles (06/2020 - 01/2017)
7. Yuan, Bo: 2 articles (06/2020 - 01/2017)
8. Fu, Cary: 2 articles (01/2020 - 01/2019)
9. Neul, Jeffrey L: 2 articles (01/2020 - 01/2019)
10. Bauer, Michael: 2 articles (01/2018 - 02/2015)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Lubs X-linked mental retardation syndrome:
1. Type A Botulinum Toxins (Botox)FDA Link
2. Botulinum Toxins (Botulinum Toxin)IBA
3. Methyl-CpG-Binding Protein 2IBA
4. Biomarkers (Surrogate Marker)IBA
5. Hydrocortisone (Cortisol)FDA LinkGeneric
6. Immunoglobulin G (IgG)IBA
7. Immunoglobulin A (IgA)IBA
8. Co-Repressor ProteinsIBA
9. Interleukin-1 Receptor-Associated KinasesIBA
10. Neural Cell Adhesion Molecule L1 (L1 Cell Adhesion Molecule)IBA

Therapies and Procedures

1. Therapeutics
2. Deep Brain Stimulation
3. Antibiotic Prophylaxis
4. General Anesthesia