4q partial monosomy syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0265404

JABL: Deletion of the long arm of chromosome 4 with a variable phenotype consisting mainly of delayed psychomotor development, craniofacial anomalies, cardiovascular defects, skeletal abnormalities, occasional cleft palate, micrognathia, and glossoptosis (Pierre Robin sequence) and other disorders. Rieger anomaly (malformations of the anterior chamber of the eye and the teeth) occurs in some cases.

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