Multiple closely related individuals affected with the same condition, particularly if the condition is rare

Common disorders with earlier age of onset than typical (especially if onset is early in multiple family members). For example:

Bilateral disease in paired organs (e.g.., eyes, kidneys, lungs, breasts)

Sudden cardiac death in a person who seemed healthy

Individual or couple with three or more pregnancy losses (e.g.., miscarriages, stillbirths)

Medical problems in the offspring of parents who are consanguineous (first cousins or more closely related)

   Two or more seemingly unrelated medical conditions (e.g.., hearing loss and renal disease, diabetes and muscle disease)

  A medical condition and dysmorphic features

  Developmental delay with dysmorphic features and/or physical birth anomalies

  Developmental delay associated with other medical conditions

   Progressive mental retardation, loss of developmental milestones

   Progressive behavioral problems

  Unexplained hypotonia

A movement disorder

Unexplained seizures

Unexplained ataxia

Two or more major birth anomalies

Three or more minor birth anomalies

One major birth defect with two minor anomalies

A cleft palate, or cleft lip with or without cleft palate

Unusual birthmarks (particularly if associated with seizures, learning disabilities, or dysmorphic features)

Hair anomalies (hirsute, brittle, coarse, kinky, sparse or absent)

Congenital or juvenile deafness

Congenital or juvenile blindness

Cataracts at a young age

Primary amenorrhea

Ambiguous genitalia

Proportionate short stature with dysmorphic features and/or delayed or arrested puberty

Disproportionate short stature

Premature ovarian failure

Proportionate short stature and primary amenorrhea

Males with hypogonadism and/or significant gynecomastia

Congenital absence of the vas deferens

Oligozoospermia/azoospermia

A major structural anomaly

Significant growth retardation

Multiple minor anomalies