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Snyder Robinson syndrome

An X-linked recessive intellectual disability syndrome that also affects other body structures. Additional characteristics include facial asymmetry, marfanoid habitus, unsteady gait, thickened lower lip, nasal dysarthic speech (DYSARTHRIA), narrow or CLEFT PALATE, diminished muscle mass, OSTEOPOROSIS: KYPHOSIS, long great toes, short stature, PECTUS CARINATUM, and MYOPIA. Mutations in the SMS gene have been identified. OMIM: 309583
Also Known As:
Mental Retardation, X-Linked, Snyder-Robinson Type; Snyder-Robinson Mental Retardation Syndrome; Snyder-Robinson Syndrome; X-linked mental retardation Snyder - Robinson type
Networked: 39 relevant articles (1 outcomes, 2 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Intellectual Disability (Idiocy)
2. Osteoporosis
3. Muscle Hypotonia (Hypotonia)
4. Inborn Genetic Diseases (Disease, Hereditary)
5. Movement Disorders (Movement Disorder)

Experts

1. Schwartz, Charles E: 9 articles (04/2020 - 09/2010)
2. Pegg, Anthony E: 7 articles (01/2016 - 01/2006)
3. Alexov, Emil: 6 articles (01/2016 - 09/2010)
4. Zhang, Zhe: 5 articles (01/2014 - 09/2010)
5. Zhai, R Grace: 4 articles (01/2022 - 11/2017)
6. Norris, Joy: 4 articles (01/2016 - 03/2011)
7. Schwartz, Charles: 4 articles (01/2016 - 10/2009)
8. Ikeguchi, Yoshihiko: 4 articles (01/2014 - 01/2006)
9. Casero, Robert A: 3 articles (01/2022 - 12/2018)
10. Diaz-Perez, Zoraida: 3 articles (01/2022 - 11/2017)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Snyder Robinson syndrome:
1. PolyaminesIBA
2. AcetylesteraseIBA
3. Spermine SynthaseIBA
4. SpermineIBA
5. SpermidineIBA
6. EnzymesIBA
7. Proteins (Proteins, Gene)FDA Link
8. Amino AcidsFDA Link
9. SRS-AIBA
10. Eflornithine (Ornidyl)FDA Link