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Kaya-Barakat-Masson syndrome

Summary

Excerpted from the GeneReview: YIF1B-Related Neurodevelopmental Disorder
YIF1B-related neurodevelopmental disorder (YIF1B-NDD) is characterized by severe-to-profound developmental delay / intellectual disability with variable motor abnormalities including axial hypotonia, peripheral hypertonia, dystonia, and dyskinesia; absence of speech in most individuals or very limited speech subject to regression; feeding difficulties; seizures; postnatal microcephaly with nonspecific brain MRI abnormalities; and ophthalmologic involvement (strabismus, nystagmus, optic atrophy, and cortical blindness). Some individuals have hypoventilation.
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:
Eva Medico-Salsench
Namik Kaya
Tahsin Stefan Barakat
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Genes See tests for all associated and related genes

  • Also known as: FinGER8, KABAMAS, YIF1B
    Summary: Yip1 interacting factor homolog B, membrane trafficking protein

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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