U.S. flag

An official website of the United States government

GTR Home > Conditions/Phenotypes > Hogue-Janssens syndrome 1

Hogue-Janssens syndrome 1

Synonyms
HOUGE-JANSSENS SYNDROME 1; INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 35; Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Modes of inheritance
Autosomal dominant inheritance (Orphanet)

Summary

Excerpted from the GeneReview: PPP2R5D-Related Neurodevelopmental Disorder
PPP2R5D-related neurodevelopmental disorder is characterized by mild to severe neurodevelopmental delay. Pronounced hypotonia with delay in gross motor skills is common. Onset of independent walking varies widely and ataxia is reported. All reported individuals have speech impairment, with a wide range of abilities. Autism spectrum disorder is reported in six individuals. Macrocephaly is common. Seizures and ophthalmologic abnormalities are reported in fewer than half of individuals. Additional anomalies include skeletal, endocrine, and cardiac malformations, each reported in a few individuals. To date, 23 individuals with PPP2R5D-related neurodevelopmental disorder have been reported.
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:
Ghayda Mirzaa
Kimberly Foss
Mary Nattakom
view full author information

Available tests

14 tests are in the database for this condition.

Check Related conditions for additional relevant tests.

Clinical tests (14 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: B56D, B56delta, HJS1, MRD35, PPP2R5D
    Summary: protein phosphatase 2 regulatory subunit B'delta

Clinical features

Help
Imported from Human Phenotype Ontology (HPO)

Show allHide all

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.