X-linked intellectual disability, Snyder type
Synonyms: Snyder-Robinson syndrome
X-linked intellectual disability Snyder type is a rare X-linked intellectual disability syndrome characterized by hypotonia asthenic build with diminished muscle mass severe generalized psychomotor delay unsteady gait and moderate to severe intellectual disability as well as a long thin asymmetrical face with prominent lower lip long fingers and toes and nasal dysarthric or absent speech. Bone abnormalities (e.g. osteoporosis kyphoscoliosis fractures joint contractures) are also characteristic. Myoclonic or myoclonic-like seizures and renal abnormalities have been associated in some patients.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http: //www.orphadata.org. Data version September 2023.
Newly diagnosed with
X-linked intellectual disability, Snyder type?
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