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chromosome 1p36 deletion syndrome

Disease Summary
Associated Targets (5)
Tbio

4

Tclin

1


GARD Rare
Mondo Description A chromosomal anomaly characterized by distinctive facial dysmorphic features, hypotonia, developmental delay, intellectual disability, seizures, heart defects, hearing impairment and prenatal onset growth deficiency.
Mondo Term and Equivalent IDs
MONDO:0011929:  chromosome 1p36 deletion syndrome
GARD:0006082: 
MESH:C535362: 
NCIT:C74983: 
Orphanet:1606: 
SCTID:699306003: 
UMLS:C1842870: