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An autosomal recessive, lethal neurodevelopmental disorder characterized by multiple clinical manifestations including intrauterine growth restriction, failure to thrive, developmental delay, hypotonia, interstitial lung disease, and liver dysfunction. Brain imaging shows abnormal periventricular white matter, basal ganglia echogenicity, cerebral volume loss, incomplete closure of the Sylvian fissures, and normal myelination.




Developmental delay, small stature, microcephaly, and brain calcifications
Neurodevelopmental disorder with brain, liver, and lung abnormalities
Rajab syndrome


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