Orphanet: X linked intellectual disability, Snyder type

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X-linked intellectual disability, Snyder type

Disease definition

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.

ORPHA:3063

Classification level: Disorder

Synonym(s):
- Snyder-Robinson syndrome
Prevalence: <1 / 1 000 000
Inheritance: X-linked recessive
Age of onset: Adolescent, Childhood, Infancy
ICD-10: Q87.8
ICD-11: LD90
OMIM: 309583
UMLS: C0796160
MeSH: C536678
GARD: 5615
MedDRA: -

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X-linked intellectual disability, Snyder type

ORPHA:3063

A summary on this disease is available in Deutsch (2006) Italiano (2006) Español (2014) Français (2014) Nederlands (2014)

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