- Abnormality of dental eruption (HP:0006292): An abnormality of tooth eruption. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:199306)
- 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: Frequent (HP:0040282). (ORPHA:199306)
- 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: Frequent (HP:0040282). (ORPHA:199306)
- Velopharyngeal insufficiency (HP:0000220): Inability of velopharyngeal sphincter to sufficiently separate the nasal cavity from the oral cavity during speech. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199306)
- Recurrent otitis media (HP:0000403): Increased susceptibility to otitis media, as manifested by recurrent episodes of otitis media. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199306)
- 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: Frequent (HP:0040282). (ORPHA:199306)
- Poor suck (HP:0002033): An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199306)
- Feeding difficulties in infancy (HP:0008872): Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199306)
- Speech articulation difficulties (HP:0009088): Impairment in the physical production of speech sounds. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199306)
- Unilateral cleft palate (HP:0100334). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199306)
- Oral-pharyngeal dysphagia (HP:0200136). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:199306)
- Conductive hearing impairment (HP:0000405): An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199306)
- Dental malocclusion (HP:0000689): Dental malocclusion refers to an abnormality of the occlusion, or alignment, of the teeth and the way the upper and lower teeth fit together, resulting in overcrowding of teeth or in abnormal bite patterns. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199306)
- Hypernasal speech (HP:0001611): A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199306)
- Malnutrition (HP:0004395): A deficiency in the intake of energy and nutrients. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199306)
- Peg-shaped maxillary lateral incisors (HP:0006342): A tooth crown with its mesial and distal sides converging or tapering toward the incisal edge causing severe reduction of mesiodistal diameter. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199306)
- Palate fistula (HP:0010294): A fistula which connects the oral cavity and the pharyngeal area via the aspects of the soft palate. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199306)
- Abnormal number of permanent teeth (HP:0011044): The presence of an altered number of of permanent teeth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199306)
- Bilateral cleft palate (HP:0100337): Nonmidline cleft palate on the left and right sides. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199306)
- Agenesis of lateral incisor (HP:0200153). Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:199306)
- Hypoplasia of the maxilla (HP:0000327): Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region. Evidence: TAS. Frequency: Very rare (HP:0040284). (ORPHA:199306)
These phenotypes are associated with the disease Cleft lip/palate (ORPHA:199306).