- Failure to thrive (HP:0001508): Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:92050)
- Malabsorption (HP:0002024): Impaired ability to absorb one or more nutrients from the intestine. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:92050)
- Chronic diarrhea (HP:0002028): The presence of chronic diarrhea, which is usually taken to mean diarrhea that has persisted for over 4 weeks. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:92050)
- Villous atrophy (HP:0011473): The enteric villi are atrophic or absent. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:92050)
- Irritability (HP:0000737): An emotional state characterized by negative feelings of heightened frustration, annoyance, or feeling upset, often triggered by internal factors (e.g., fatigue, hunger, unfulfilled desires) or external factors (e.g., social or environmental challenges). Irritability may be unpredictable, and is accompanied by a lowered threshold for emotional reactivity and observable features (speech, facial expressions, or psychomotor activity). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:92050)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:92050)
- Dehydration (HP:0001944). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:92050)
- Steatorrhea (HP:0002570): Greater than normal amounts of fat in the feces. This is a result of malabsorption of lipids in the small intestine and results in frothy foul-smelling fecal matter that floats. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:92050)
- Abdominal distention (HP:0003270): Distention of the abdomen. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:92050)
- Secretory diarrhea (HP:0005208): Watery voluminous diarrhea resulting from an imbalance between ion and water secretion and absorption. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:92050)
- Abnormal small intestinal mucosa morphology (HP:0025129): A structural anomaly of the mucous lining of the small intestine. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:92050)
- Elevated fecal osmolality (HP:0032486): Abnormally high concentration of feces as assessed by the total number of solute particles per kilogram. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:92050)
- Cataract (HP:0000518): A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:92050)
- Photophobia (HP:0000613): Excessive sensitivity to light with the sensation of discomfort or pain in the eyes due to exposure to bright light. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:92050)
- Abnormality of the skin (HP:0000951): An abnormality of the skin. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:92050)
- Arthritis (HP:0001369): Inflammation of a joint. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:92050)
- Abnormal large intestinal mucosa morphology (HP:0025090): A structural anomaly of the mucous lining of the large intestine. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:92050)
- Corneal erosion (HP:0200020): An erosion or abrasion of the cornea's outermost layer of epithelial cells. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:92050)
- Orofacial cleft (HP:0000202): The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:92050)
- Choanal atresia (HP:0000453): Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:92050)
- Optic disc coloboma (HP:0000588): A cleft of the optic nerve that extends inferiorly. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:92050)
- Vomiting (HP:0002013): Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:92050)
- Anal atresia (HP:0002023): Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:92050)
- Cholestatic liver disease (HP:0002611). Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:92050)
- Skeletal dysplasia (HP:0002652): A general term describing features characterized by abnormal development of bones and connective tissues. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:92050)
- Punctate keratitis (HP:0011859): A type of keratitis characterized by inflammation in pinpoint areas of the corneal epithelium. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:92050)
These phenotypes are associated with the disease Congenital tufting enteropathy (ORPHA:92050).