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Gene: SMS

Green List (high evidence)

Snyder-Robinson syndrome (SRS) is an X-linked intellectual disability syndrome characterized by asthenic build, facial dysmorphism with a prominent lower lip, kyphoscoliosis, osteoporosis, speech abnormalities, and seizures. Developmental delay usually presents as failure to meet early developmental milestones and then evolves to moderate to profound intellectual disability (which appears to remain stable over time) and variable motor disability. Asthenic habitus and low muscle mass usually develop during the first year, even in males who are ambulatory. During the first decade, males with SRS develop osteoporosis, resulting in fractures in the absence of trauma.

More than 10 unrelated individuals reported.

Created: 12 Dec 2024, 1:02 a.m. | Last Modified: 12 Dec 2024, 1:02 a.m.

Panel Version: 1.633

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Intellectual developmental disorder, X-linked syndromic, Snyder-Robinson type MIM#309583

Publications

• 30237987
• 34177437
• 32838743
• 23805436