Acromelic frontonasal dysplasia

Source:http://linkedlifedata.com/resource/umls/id/C0796182

JABL: A subtype of frontonasal dysplasia (FND) associated with postaxial polydactyly, tibial hypoplasia, epibulbar epidermoid, occipital encephalocele, agenesis of the corpus callosum, Dandy-Walker malformation (partial or complete absence of the cerebellar vermis, hydrocephalus, and posterior fossa cyst continuous with the fourth ventricle, and mental retardation.

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