syndromic intellectual disability microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/microcephaly_cerebellar_hypoplasia_and_cardiac_conduction_defect_syndrome MCHCCD MEDGEN:482322 UMLS:C3280692 microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome GARD:0017502 OMIM:614407 MONDO:0013735 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome is a rare, genetic congenital anomalies/dysmorphic syndrome characterized by growth failure, global developmental delay, profound intellectual disability, autistic behaviors, acquired second-degree heart block with bradycardia and vasomotor instability. Hands and feet present with long fusiform fingers, campto-clinodactyly and crowded toes while craniofacial dysmorphism includes microcephaly, broad forehead, thin eyebrows, upslanting palpebral fissures, large ears with prominent antihelix, prominent nose, long philtrum, thin upper lip vermillion and prominent lower lip. Neurological signs include hypotonia, brisk reflexes, dystonic-like movements and truncal ataxia and imaging shows cerebellar hypoplasia and simplified gyral pattern. microcephaly, cerebellar hypoplasia, and CARDIAC conduction defect syndrome Orphanet:329332 multiple congenital anomalies/dysmorphic syndrome-intellectual disability