- Gastrointestinal hemorrhage (HP:0002239): Hemorrhage affecting the gastrointestinal tract. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79076)
- Diarrhea (HP:0002014): Abnormally increased frequency (usually defined as three or more) loose or watery bowel movements a day. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79076)
- Cachexia (HP:0004326): Severe weight loss, wasting of muscle, loss of appetite, and general debility related to a chronic disease. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Protein-losing enteropathy (HP:0002243): Abnormal loss of protein from the digestive tract related to excessive leakage of plasma proteins into the lumen of the gastrointestinal tract. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Macrocephaly (HP:0000256): Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Subcutaneous lipoma (HP:0001031): The presence of subcutaneous lipoma. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:79076)
- Hemangioblastoma (HP:0010797): A hemangioblastoma is a benign vascular neoplasm that arises almost exclusively in the central nervous system. Hemangioblastomas consist of a tightly packed cluster of small blood vessels forming a mass of up to 1 or 2 cm in diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Abnormal facial shape (HP:0001999): An abnormal morphology (form) of the face or its components. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Large forehead (HP:0002003). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Hypertelorism (HP:0000316): Interpupillary distance more than 2 SD above the mean (alternatively, the appearance of an increased interpupillary distance or widely spaced eyes). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Downslanted palpebral fissures (HP:0000494): The palpebral fissure inclination is more than two standard deviations below the mean. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Depressed nasal bridge (HP:0005280): Posterior positioning of the nasal root in relation to the overall facial profile for age. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Low-set ears (HP:0000369): Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Narrow mouth (HP:0000160): Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Short chin (HP:0000331): Decreased vertical distance from the vermilion border of the lower lip to the inferior-most point of the chin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Mild intellectual disability (HP:0001256): Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Hamartomatous polyposis (HP:0004390): Polyp-like protrusions which are histologically hamartomas. These can occur throughout the gastrointestinal tract. Hamartomatous polyps are composed of the normal cellular elements of the gastrointestinal tract, but have a markedly distorted architecture. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Abdominal pain (HP:0002027): An unpleasant sensation characterized by physical discomfort (such as pricking, throbbing, or aching) and perceived to originate in the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Hematochezia (HP:0002573): The passage of fresh (red) blood per anus, usually in or with stools. Most rectal bleeding comes from the colon, rectum, or anus. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Anemia (HP:0001903): A reduction in erythrocytes volume or hemoglobin concentration. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:79076)
- Melena (HP:0002249): The passage of blackish, tarry feces associated with gastrointestinal hemorrhage. Melena occurs if the blood remains in the colon long enough for it to be broken down by colonic bacteria. One degradation product, hematin, imbues the stool with a blackish color. Thus, melena generally occurs with bleeding from the upper gastrointestinal tract (e.g., stomach ulcers or duodenal ulcers), since the blood usually remains in the gut for a longer period of time than with lower gastrointestinal bleeding. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Refractory anemia (HP:0005505). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Hypoalbuminemia (HP:0003073): The concentration of albumin in the blood circulation is below the lower limit of normal. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Intestinal bleeding (HP:0002584): Bleeding from the intestines. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Intussusception (HP:0002576): An abnormality of the intestine in which part of the intestine invaginates (telescopes) into another part of the intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Rectal prolapse (HP:0002035): Protrusion of the rectal mucous membrane through the anus. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Clubbing of fingers (HP:0100759): Terminal broadening of the fingers (distal phalanges of the fingers). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Abnormal heart morphology (HP:0001627): Any structural anomaly of the heart. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Generalized hypotonia (HP:0001290): Generalized muscular hypotonia (abnormally low muscle tone). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Motor delay (HP:0001270): A type of Developmental delay characterized by a delay in acquiring motor skills. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Atrial septal defect (HP:0001631): 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. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Patent ductus arteriosus (HP:0001643): In utero, the ductus arteriosus (DA) serves to divert ventricular output away from the lungs and toward the placenta by connecting the main pulmonary artery to the descending aorta. A patent ductus arteriosus (PDA) in the first 3 days of life is a physiologic shunt in healthy term and preterm newborn infants, and normally is substantially closed within about 24 hours after bith and completely closed after about three weeks. Failure of physiologcal closure is referred to a persistent or patent ductus arteriosus (PDA). Depending on the degree of left-to-right shunting, PDA can have clinical consequences. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Short stature (HP:0004322): 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). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Midclavicular hypoplasia (HP:0006608): Underdevelopment of the middle portion of the clavicle. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Hemangioma (HP:0001028): A hemangioma is a benign tumor characterized by blood-filled spaces lined by benign endothelial cells. A hemangioma characterized by large endothelial spaces (caverns) is called a cavernous hemangioma (in contrast to a hemangioma with small endothelial spaces, which is called capillary hemangioma). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Intellectual disability (HP:0001249): The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Abnormal bleeding (HP:0001892): An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:79076)
- Adenomatous colonic polyposis (HP:0005227): Presence of multiple adenomatous polyps in the colon. Evidence: TAS. Frequency: Obligate (HP:0040280). (ORPHA:79076)
- Freckled genitalia (HP:0030257): One or more brown punctate macules on the skin of the genitalia. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Frontal bossing (HP:0002007): Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- High, narrow palate (HP:0002705): The presence of a high and narrow palate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Broad thumb (HP:0011304): Increased thumb width without increased dorso-ventral dimension. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
- Broad phalanx of the toes (HP:0010174): Increased width of phalanx of one or more toes. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:79076)
These phenotypes are associated with the disease Juvenile polyposis of infancy (ORPHA:79076).