You are using an outdated browser. Please upgrade your browser to improve your experience.
microcephalic primordial dwarfism due to RTTN deficiency
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Microcephalic primordial dwarfism due to RTTN deficiency is a rare, genetic, multiple congenital anomalies/dysmorphic syndrome characterized by primary microcephaly, profound short stature, moderate to severe intellectual disability, global developmental delay, craniofacial dysmorphism (e.g. sloping forehead, high and broad nasal bridge) and variable brain malformations, including simplified gyration, pachygyria, polymicrogyria, reduced sulcation, dysgenesis of corpus callosum and deformed ventricles. Renal anomalies, bilateral hearing loss, multiple joint contractures, severe failure to thrive and a sacral lesion cephalad to the gluteal crease have also been reported.
Mondo Term and Equivalent IDs
MONDO:0018764: microcephalic primordial dwarfism due to RTTN deficiency
Orphanet:468631:
Use Cases
Submit Feedback
Download Data for microcephalic primordial dwarfism due to RTTN deficiency
data still loading...
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.
Orphanet:468631
MONDO:0018764
High level summary of knowledge for a disease, including descriptions and datasource references.