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GTR Home > Conditions/Phenotypes > Syndromic X-linked intellectual disability Lubs type

Syndromic X-linked intellectual disability Lubs type

Synonyms
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC, LUBS TYPE; Lubs X-linked mental retardation syndrome; MECP2 duplication syndrome; MENTAL RETARDATION, X-LINKED, WITH RECURRENT RESPIRATORY INFECTIONS; Mental retardation, X-linked, Lubs type; XLMR syndrome, Lubs type

Summary

Excerpted from the GeneReview: MECP2 Duplication Syndrome
MECP2 duplication syndrome is a severe neurodevelopmental disorder characterized by early-onset hypotonia, feeding difficulty, gastrointestinal manifestations including gastroesophageal reflux and constipation, delayed psychomotor development leading to severe intellectual disability, poor speech development, progressive spasticity, recurrent respiratory infections (in ~75% of affected individuals), and seizures (in ~50%). MECP2 duplication syndrome is 100% penetrant in males. Occasionally females have been described with a MECP2 duplication and a range of findings from mild intellectual disability to a phenotype similar to that seen in males. In addition to the core features, autistic behaviors, nonspecific neuroradiologic findings on brain MRI, mottled skin, and urogenital anomalies have been observed in several affected boys.
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:
Hilde Van Esch
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Available tests

89 tests are in the database for this condition.

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Clinical tests (89 available)

Cytogenetics Tests

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: AUTSX3, MRX16, MRX79, MRXS13, MRXSL, PPMX, RS, RTS, RTT, MECP2
    Summary: methyl-CpG binding protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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