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GTR Home > Conditions/Phenotypes > Intellectual disability-severe speech delay-mild dysmorphism syndrome

Intellectual disability-severe speech delay-mild dysmorphism syndrome

Synonyms
Mental retardation with language impairment and autistic features

Summary

Excerpted from the GeneReview: FOXP1 Syndrome
FOXP1 syndrome is characterized by delays in early motor and language milestones, mild-to-severe intellectual deficits, speech and language impairment in all individuals regardless of level of cognitive abilities, and behavior abnormalities (including autism spectrum disorder or autistic features, attention-deficit/hyperactivity disorder, anxiety, repetitive behaviors, sleep disturbances, and sensory symptoms). Other common findings are oromotor dysfunction (contributing to speech and feeding difficulties), refractive errors, strabismus, cardiac abnormalities, renal abnormalities, cryptorchidism, hypertonia, hearing loss, and epilepsy. To date, more than 200 individuals have been identified with FOXP1 syndrome.
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:
Gudrun Rappold
Paige Siper
Ana Kostic
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Available tests

29 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (29 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: 12CC4, HSPC215, MFH, QRF1, hFKH1B, FOXP1
    Summary: forkhead box P1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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