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GTR Home > Conditions/Phenotypes > AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome

Synonyms
Xia-Gibbs syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: Xia-Gibbs Syndrome
The main features of Xia-Gibbs syndrome (XGS), present in a majority of affected individuals, include delayed motor milestones, speech delay with severely limited or absent speech, moderate-to-severe cognitive impairment, hypotonia, structural brain anomalies, and nonspecific dysmorphic features. Other features may include sleep apnea, movement disorders (ataxia, tremors, and bradykinesias) that often become apparent in childhood or adolescence, short stature, seizures, eye anomalies, behavioral concerns, autism spectrum disorder, scoliosis, and laryngomalacia.
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:
Varuna Chander
Michael Wangler
Richard Gibbs
view full author information

Available tests

16 tests are in the database for this condition.

Clinical tests (16 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: MRD25, XIGIS, AHDC1
    Summary: AT-hook DNA binding motif containing 1

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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