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Items: 3

1.

Attention deficit-hyperactivity disorder 8

Attention deficit-hyperactivity disorder-8 (ADHD8) is a severe early-childhood neuropsychiatric disorder characterized by a persistent pattern of hyperactive behavior and impulsivity (Halperin et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of attention deficit-hyperactivity disorder, see 143465. [from OMIM]

MedGen UID:
1808030
Concept ID:
C5677018
Mental or Behavioral Dysfunction
2.

Agenesis of corpus callosum, cardiac, ocular, and genital syndrome

Agenesis of corpus callosum, cardiac, ocular, and genital syndrome (ACOGS) is a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, corpus callosum agenesis or hypoplasia, craniofacial dysmorphisms, and ocular, cardiac, and genital anomalies (Accogli et al., 2019). [from OMIM]

MedGen UID:
1718475
Concept ID:
C5394523
Disease or Syndrome
3.

Arrhythmogenic right ventricular dysplasia, familial, 14

Arrhythmogenic right ventricular cardiomyopathy/dysplasia-14 (ARVD14) is characterized by palpitations, chest pain, and presyncope. Electrocardiography shows epsilon waves, T-wave inversion across anterior leads, premature ventricular contractions, ventricular tachycardia, and left bundle branch block. Dilation of the right ventricle with hypokinesia and aneurysmal changes are seen on echocardiography. Cardiac MRI may show fibrofatty infiltration, which has been confirmed by endocardial biopsy in some patients. Sudden death may occur (Mayosi et al., 2017). For a discussion of genetic heterogeneity of ARVD, see ARVD1 (107970). [from OMIM]

MedGen UID:
1712001
Concept ID:
C5394505
Disease or Syndrome
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