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Items: 4

1.

Hypoplastic left heart syndrome 2

Hypoplastic left heart syndrome results from defective development of the aorta proximal to the entrance of the ductus arteriosus and hypoplasia of the left ventricle and mitral valve. As a result of the abnormal circulation, the ductus arteriosus and foramen ovale are patent and the right atrium, right ventricle, and pulmonary artery are enlarged (Brekke, 1953). For a discussion of genetic heterogeneity of hypoplastic left heart syndrome, see HLHS1 (241550). [from OMIM]

MedGen UID:
482425
Concept ID:
C3280795
Disease or Syndrome
2.

Holoprosencephaly 14

Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum (Drissi et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100). [from OMIM]

MedGen UID:
1811868
Concept ID:
C5676994
Disease or Syndrome
3.

Aortic valve atresia

A congenital disorder of the aortic valve in which the orifice of the valve fails to develop. [from HPO]

MedGen UID:
451016
Concept ID:
C0265843
Congenital Abnormality
4.

Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Mitochondrial complex IV deficiency nuclear type 5 (MC4DN5) is an autosomal recessive severe metabolic multisystemic disorder with onset in infancy. Features include delayed psychomotor development, impaired intellectual development with speech delay, mild dysmorphic facial features, hypotonia, ataxia, and seizures. There is increased serum lactate and episodic hypoglycemia. Some patients may have cardiomyopathy, abnormal breathing, or liver abnormalities, reflecting systemic involvement. Brain imaging shows lesions in the brainstem and basal ganglia, consistent with a diagnosis of Leigh syndrome (see 256000). Affected individuals tend to have episodic metabolic and/or neurologic crises in early childhood, which often lead to early death (summary by Debray et al., 2011). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110. [from OMIM]

MedGen UID:
387801
Concept ID:
C1857355
Disease or Syndrome

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