You are using an outdated browser. Please upgrade your browser to improve your experience.
syndromic X-linked intellectual disability Hedera type
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description X-linked intellectual disability, Hedera type is a rare X-linked intellectual disability syndrome characterized by an onset in infancy of delayed motor and speech milestones, generalized tonic-clonic seizures and drop attacks, and mild to moderate intellectual disability. Additional, less common manifestations include scoliosis, ataxia (resulting in progressive gait disturbance), and bilateral pes planovalgus. Physical appearance is normal with no dysmorphic features reported.
Uniprot Description A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXE patients manifest mild to moderate mental retardation associated with epilepsy, delays in motor milestones and speech acquisition in infancy.
Mondo Term and Equivalent IDs
MONDO:0010319: syndromic X-linked intellectual disability Hedera type
Download Data for syndromic X-linked intellectual disability Hedera type
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.
Description from UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0060806
MESH:C564516
OMIM:300423
Orphanet:93952
UMLS:C1845543
MONDO:0010319
High level summary of knowledge for a disease, including descriptions and datasource references.