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pectus excavatum-macrocephaly-dysplastic nails syndrome

Disease Summary
Associated Targets (0)

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Mondo Description Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). There have been no further descriptions in the literature since 1992.
Mondo Term and Equivalent IDs
MONDO:0010883:  pectus excavatum-macrocephaly-dysplastic nails syndrome
GARD:0000374: 
MESH:C536728: 
Orphanet:2835: 
SCTID:763863002: 
UMLS:C2931302: 
GWAS Targets (0)
No GWAS traits found
Target Novelty (Tin-x)
No novelty measurements found