Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.

Aortic valve disease-2 (AOVD2) is characterized by bicuspid aortic valve (BAV) and dilation of the ascending aorta. Calcification of the valve and the aorta has been observed, and some patients exhibit coarctation of the aorta (Tan et al., 2012; Luyckx et al., 2019; Park et al., 2019). For a general phenotypic description and a discussion of genetic heterogeneity of aortic valve disease, see AOVD1 (109730).

An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.

A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).

A deficiency or slowing down of growth pre- and postnatally.

Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.

Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.

Cephalgia, or pain sensed in various parts of the head, not confined to the area of distribution of any nerve.

Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.

An unintentional, oscillating to-and-fro muscle movement about a joint axis.

This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.

A degree of language development that is significantly below the norm for a child of a specified age.

Increased susceptibility to fatigue.

A mild delay in the achievement of motor or mental milestones in the domains of development of a child.

Reduced strength of muscles.

A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.

An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.

Failure of the immune system to protect the body adequately from infection, due to the absence or insufficiency of some component process or substance.

Decreased levels of immunoglobulin A (IgA).

Infections of the skin that happen multiple times.

An abnormally decreased level of immunoglobulin in blood.

An abnormally reduced amount of creatinine in the blood.

A decreased concentration of homocysteine in the blood.

A decreased amount of cystine in the blood.

Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky.