Phenotypes associated with the disease Isolated congenital hypoglossia/aglossia (ORPHA:141152):
- Delayed speech and language development (HP:0000750): A degree of language development that is significantly below the norm for a child of a specified age. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:141152)
- Dyspnea (HP:0002094): Difficult or labored breathing. Dyspnea is a subjective feeling only the patient can rate, e.g., on a Borg scale. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:141152)
- Nasogastric tube feeding in infancy (HP:0011470): Feeding problem necessitating nasogastric tube feeding. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:141152)
- Feeding difficulties (HP:0011968): Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:141152)
- Microglossia (HP:0000171): Decreased length and width of the tongue. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141152)
- Micrognathia (HP:0000347): Developmental hypoplasia of the mandible. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141152)
- Weight loss (HP:0001824): Reduction of total body weight. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141152)
- Respiratory distress (HP:0002098): Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141152)
- Upper airway obstruction (HP:0002781): Increased resistance to the passage of air in the upper airway. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141152)
- Aplasia/Hypoplasia of fingers (HP:0006265): Small/hypoplastic or absent/aplastic fingers. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141152)
- Gastrostomy tube feeding in infancy (HP:0011471): Feeding problem necessitating gastrostomy tube feeding. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:141152)
- Cleft palate (HP:0000175): Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141152)
- Abnormal epiglottis morphology (HP:0005483): An abnormality of the epiglottis. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141152)
- Hamartoma (HP:0010566): A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141152)
- Aspiration pneumonia (HP:0011951): Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141152)
- Temporomandibular joint ankylosis (HP:0012478): Bony fusion of the mandibular condyle to the base of the skull, resulting in limitation of jaw opening. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:141152)