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GTR Home > Conditions/Phenotypes > Intellectual disability, autosomal dominant 1

Intellectual disability, autosomal dominant 1

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 1; MBD5 Haploinsufficiency

Summary

Excerpted from the GeneReview: MBD5 Haploinsufficiency
MBD5 haploinsufficiency is a neurodevelopmental disorder characterized by developmental delay, intellectual disability, severe speech impairment, seizures, sleep disturbances, and abnormal behaviors. Most children lack speech entirely or have single words, short phrases, or short sentences. Seizures are present in more than 80% of children; onset is usually around age two years. Sleep disturbances, present in about 90%, can result in excessive daytime drowsiness. Abnormal behaviors can include autistic-like behaviors (80%) and self-injury and aggression (>60%).
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Sureni V Mullegama
Roberto Mendoza-Londono
Sarah H Elsea
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Available tests

47 tests are in the database for this condition.

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Clinical tests (46 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: C2DELq23.1, DEL2Q23.1, MRD1, MBD5
    Summary: methyl-CpG binding domain protein 5

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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