Rajab Interstitial Lung Disease with Brain Calcifications 1 (RILDBC1)

Alias:

Rajab Interstitial Lung Disease with Brain Calcifications

Rajab Syndrome

Rildbc1

Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications, Formerly

Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities, Formerly

Developmental Delay, Small Stature, Microcephaly, and Brain Calcifications

Neurodevelopmental Disorder with Brain, Liver, and Lung Abnormalities

Nedblla, Formerly

Nedblla

Rildbc

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Rajab Interstitial Lung Disease with Brain Calcifications 1, also known as rajab interstitial lung disease with brain calcifications, is related to rajab interstitial lung disease with brain calcifications 2 and cerebroretinal microangiopathy with calcifications and cysts 1, and has symptoms including headache An important gene associated with Rajab Interstitial Lung Disease with Brain Calcifications 1 is FARSB (Phenylalanyl-TRNA Synthetase Subunit Beta). Affiliated tissues include lung and brain, and related phenotypes are seizure and failure to thrive

Related ID：

MALACARDS：RJB003

OMIM：613658

MESH：D065886