Mondo Description A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance.
Disease Ontology Description An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability.
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.
This disease has been annotated by GARD as a rare disease.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0050569
GARD:0008562
NCIT:C125488
OMIMPS:210600
Orphanet:808
SCTID:57917004
UMLS:C0265202
MONDO:0019342
High level summary of knowledge for a disease, including descriptions and datasource references.