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O'Donnell-Luria-Rodan syndrome

Summary

Excerpted from the GeneReview: KMT2E-Related Neurodevelopmental Disorder
KMT2E-related neurodevelopmental disorder (KMT2E-NDD) is a condition characterized by global developmental delay, variable intellectual disability (typically in the mild-to-moderate range), and hypotonia. The majority of affected individuals are verbal but experience speech delays with or without articulation problems. All reported individuals who are older than infants have been able to obtain independent ambulation. About one third of affected individuals develop seizures, with no consistent seizure semiology or epilepsy syndrome. However, females may be more likely to develop seizures compared to males. Similarly, about one third of affected individuals have an autism spectrum disorder diagnosis, of which most to date are male. Growth parameters are typically in the normal range for length/height and weight, although about half of affected individuals have macrocephaly or relative macrocephaly. Constipation is the most frequent gastrointestinal issue, although gastroesophageal reflux, vomiting, and/or reduced bowel motility have been reported in almost half of affected individuals. About half of affected individuals experience some type of sleep disturbance, including frequent awakening and difficulties falling asleep.
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:
Lynn Pais
Lance Rodan
Anne O'Donnell-Luria
view full author information

Available tests

8 tests are in the database for this condition.

Clinical tests (8 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: HDCMC04P, MLL5, NKp44L, ODLURO, SETD5B, KMT2E
    Summary: lysine methyltransferase 2E (inactive)

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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