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microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Disease Summary
Associated Targets ()
Mondo Description Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type is a rare syndrome with cardiac malformations, characterized by prenatal-onset growth retardation (low birth weight and short stature), hypotonia, developmental delay and intellectual disability associated with microcephaly and craniofacial (low anterior hairline, hypotelorism, thick lips with carp-shaped mouth, high-arched palate, low-set ears), cardiac (conotruncal heart malformations such as tetralogy of Fallot) and skeletal (hypoplastic thumbs and first metacarpals) abnormalities.
Mondo Term and Equivalent IDs
MONDO:0013053: microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
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Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
MESH:C567850
OMIM:612946
Orphanet:217026
SCTID:719395001
UMLS:C2751878
MONDO:0013053
High level summary of knowledge for a disease, including descriptions and datasource references.