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Intellectual developmental disorder 62

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 62; MENTAL RETARDATION, AUTOSOMAL DOMINANT 62

Summary

Excerpted from the GeneReview: DLG4-Related Synaptopathy
DLG4-related synaptopathy is characterized by developmental delay, intellectual disability (most commonly in the mild-to-moderate range), and autism spectrum disorder. About half of affected individuals have epilepsy. Regression in motor development and/or language has been reported in about 40% of affected individuals. Other neurologic findings can include hypotonia, movement disorder (most commonly stereotypies and ataxia), dystonia, tremor, and migraine headaches. Sleep disturbance is common, with sleep onset and/or sleep maintenance difficulties being frequently reported. Strabismus is the most common ocular finding followed by hyperopia, nystagmus, and cortical blindness. Vomiting is observed in a number of individuals and can be triggered by seizures, motion sickness, or fatigue. Joint laxity is a relatively common finding (36.9%), and scoliosis is noted in 20% of individuals.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Zeynep Tümer
Thomas J Dye
Carlos Prada
view full author information

Available tests

3 tests are in the database for this condition.

Clinical tests (3 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRD62, PSD95, SAP-90, SAP90, DLG4
    Summary: discs large MAGUK scaffold protein 4

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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