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microcephaly-cervical spine fusion anomalies syndrome

Disease Summary
Associated Targets ()

Mondo Description Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive.
Mondo Term and Equivalent IDs
MONDO:0009621:  microcephaly-cervical spine fusion anomalies syndrome
GARD:0003610: 
MESH:C537325: 
Orphanet:2522: 
SCTID:715462003: 
UMLS:C0796066: