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

Nervous System Diseases: 14178
- Neurologic Manifestations: 7102
  - Neurobehavioral Manifestations: 1586
    - Intellectual Disability: 8035
      - X-Linked Mental Retardation: 272
        Snyder Robinson syndrome: 39
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Inborn Genetic Diseases: 11939
  - Nervous System Heredodegenerative Disorders: 63
    - X-Linked Mental Retardation: 272
      - Snyder Robinson syndrome: 39
  - X-Linked Genetic Diseases: 42
    - X-Linked Mental Retardation: 272
      - Snyder Robinson syndrome: 39

L E Becerra-Solano Selected Research

L E Becerra-Solano Research Topics

Disease

Drug/Important Bio-Agent (IBA)