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microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome

Disease Summary
Associated Targets ()

Mondo Description This syndrome is characterised by microcephaly, severe intellectual deficit, phalangeal anomalies (cutaneous syndactyly of the fingers, toe brachyclinodactyly and nail hypoplasia) and neurological manifestations (epilepsy, spastic/dystonic paraplegia and brisk reflexes).
Mondo Term and Equivalent IDs
MONDO:0014096:  microcephaly-intellectual disability-phalangeal and neurological anomalies syndrome
GARD:0003498: 
SCTID:719396000: 
UMLS:C0796203: