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GTR Home > Conditions/Phenotypes > Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures

Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures

Synonyms
ELHATTAB-ALKURAYA SYNDROME

Summary

Excerpted from the GeneReview: El-Hattab-Alkuraya Syndrome
El-Hattab-Alkuraya syndrome is characterized by microcephaly (often early onset and progressive); severe-to-profound developmental delay; refractory and early-onset seizures; spastic quadriplegia with axial hypotonia; and growth deficiency with poor weight gain and short stature. Characteristic findings on brain imaging include cerebral atrophy that is disproportionately most prominent in the frontal lobes; ex vacuo ventricular dilatation with notable posterior horn predominance; brain stem volume loss with flattening of the belly of the pons; and symmetric under-opercularization. Neurologic involvement is progressive, with significant morbidity and mortality.
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:
Mohammed Almannai
Dana Marafi
Ayman W El-Hattab
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Available tests

7 tests are in the database for this condition.

Clinical tests (7 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: NEDSBAS, WDR45L, WIPI-3, WIPI3, WDR45B
    Summary: WD repeat domain 45B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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