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Items: 3

1.

Hemorrhage

The flow of blood from a ruptured blood vessel. [from NCI]

MedGen UID:
5503
Concept ID:
C0019080
Pathologic Function
2.

Language delay and attention deficit-hyperactivity disorder/cognitive impairment with or without cardiac arrhythmia

GNB5-related neurodevelopmental disorder (GNB5-NDD) is characterized by a spectrum of neurodevelopmental phenotypes that range from severe-to-profound intellectual disability (ID; 31/41 reported individuals), to mild-to-moderate ID (5/41), to normal intellect with severe language disorder (5/41, one extended family). A unique and specific feature of GNB5-NDD – regardless of neurodevelopmental phenotype – is nearly universal bradycardia caused by sinoatrial node dysfunction (sick sinus syndrome). Most individuals with severe and profound ID have a developmental and epileptic encephalopathy with focal seizures or epileptic spasms, as well as visual impairment (central or retinal) with nystagmus, difficulty feeding, and gastroesophageal reflux disease. The risk of early mortality is increased. [from GeneReviews]

MedGen UID:
934645
Concept ID:
C4310678
Disease or Syndrome
3.

Cerebral hemorrhage

Hemorrhage into the parenchyma of the brain. [from HPO]

MedGen UID:
423648
Concept ID:
C2937358
Pathologic Function
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