Definition

A syndromic X-linked intellectual disability characterized by mild to profound intellectual disability, facial asymmetry, marfanoid habitus, asthenic habitus, unsteady gait, thickened lower lip, nasal dysarthic speech, narrow or cleft palate, osteoporosis, kyphoscoliosis, long great toes, short stature, pectus carinatum, and myopia that has_material_basis_in mutation in the SMS gene on chromosome Xp22.

Synonyms

mental retardation, X-linked, Snyder-Robinson type
Snyder-Robinson mental retardation syndrome

Cross References

Parent Terms

Child Terms

None

Sources of Associations

Associated Genes

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Associated Alleles

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Associated Models

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syndromic X-linked intellectual disability Snyder type

syndromic X-linked intellectual disability Snyder type

Associated Genes

Associated Alleles

Associated Models