craniofacial dysmorphism-absent corpus callosum-iris colobomas-connective tissue dysplasia syndrome

Source:http://linkedlifedata.com/resource/umls/id/C0795911

JABL: A syndrome of macrodolichocephaly, beaked nose, hypoplastic mandible, dental anomalies, hypertelorism, antimongoloid slant of the palpebral fissures, ocular colobomas, lens dislocations, agenesis of the corpus callosum, dilatation of the cerebral ventricles, hand and foot abnormalities, joint hyperextensibility and mild mental retardation.

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