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microcephaly-micromelia syndrome

Disease Summary
Associated Targets (1)
Tbio

1


Uniprot Description A severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period.
Mondo Term and Equivalent IDs
MONDO:0009619:  microcephaly-micromelia syndrome
MESH:C565382: 
Orphanet:572768: 
UMLS:C1855079: