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Hypotonia-Cystinuria Syndrome MeSH Supplementary Concept Data 2024


MeSH Supplementary
Hypotonia-Cystinuria Syndrome
Unique ID
C564710
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/C564710
Entry Term(s)
Cystinuria with Mitochondrial Disease
Homozygous 2p21 Deletion Syndrome
Registry Number
0
Heading Mapped to
*Chromosome Deletion
Chromosomes, Human, Pair 21
*Cystinuria
*Intellectual Disability
*Muscle Hypotonia
*Craniofacial Abnormalities
*Mitochondrial Diseases
Frequency
8
Date of Entry
2012/11/05
Hypotonia-Cystinuria Syndrome Preferred
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