Program Operations Manual System (POMS)
TN 45 (08-21)
COMPASSIONATE ALLOWANCES INFORMATION
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SYNGAP1-RELATED NSID
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ALTERNATE NAMES
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SYNGAP1-related non-syndromic intellectual disability; MRD5; Syngap1 Gene Mutation
Linked To Intellectual Disability, Schizophrenia and Autism; SYNGAP1syndrome; Autosomal
dominant intellectual disability 5
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DESCRIPTION
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SYNGAP1-related NSID is a condition that primarily affects the central nervous system. This condition is
caused by changes (mutations) in the SYNGAP1 gene. Almost all reported cases are due
to de novo mutations; however, the condition can be passed down to future generations
in an autosomal dominant manner. Treatment is based on the signs and symptoms present
in each person.
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DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND ICD-9-CM/ICD-10-CM
CODING
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Diagnostic testing:Genetic testing is the only way to confirm a diagnosis of SYNGAP1-related NSID. However,
an EEG may be used to support the diagnosis.
Physical findings:
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Epileptic encephalopathy;
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Microcephaly (abnormally small head);
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Moderate to severe intellectual disability;
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Autism spectrum disorder;
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Loss of developmental milestones;
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Generalized hypotonia (decreased muscle tone)
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Global developmental delay;
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ICD-9: 318.1
ICD-10: F72
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PROGRESSION
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Individuals with SYNGAP1-related NSID continue to develop, progressing at their own
pace. Unless their epilepsy is not well controlled, they do not regress or deteriorate
and can always continue to learn.
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TREATMENT
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OT, PT, and speech therapies to maximize developmental potential. Therapy is purely
supportive.
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SUGGESTED PROGRAMMATIC ASSESSMENT*
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Suggested MER for Evaluation:
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Clinical history and examination that describes the diagnostic features of the impairment;
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Neuropsychological testing documenting intellectual disability.
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Suggested Listings for Evaluation:
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DETERMINATION
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LISTING
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REMARKS
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Meets
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12.05
112.05
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Equals
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* Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
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