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Facial Dysmorphism with Multiple Malformations MeSH Supplementary Concept Data 2024


MeSH Supplementary
Facial Dysmorphism with Multiple Malformations
Unique ID
C565579
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C565579
Registry Number
0
Heading Mapped to
*Abnormalities, Multiple
*Muscular Atrophy
*Craniofacial Abnormalities
Frequency
55
Note
A hereditary autosomal recessive disorder that is characterized by muscular atrophy and multiple abnormalities affecting facial structures and other organs. Death usually occurs in utero or in the first few months after birth. OMIM: 227255
Date of Entry
2012/11/05
Revision Date
2015/08/18
Facial Dysmorphism with Multiple Malformations Preferred
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