- Microretrognathia (HP:0000308): A form of developmental hypoplasia of the mandible in which the mandible is mislocalised posteriorly. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3102)
- Abnormal pinna morphology (HP:0000377): An abnormality of the pinna, which is also referred to as the auricle or external ear. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3102)
- Talipes equinovarus (HP:0001762): Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3102)
- Agenesis of mandibular central incisor (HP:0006355): Agenesis of lower secondary incisor or lower primary incisor. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3102)
- Aplasia/Hypoplasia of the thumb (HP:0009601): Hypoplastic/small or absent thumb. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3102)
- Short hallux (HP:0010109): Underdevelopment (hypoplasia) of the big toe. Evidence: TAS. Frequency: Very frequent (HP:0040281). (ORPHA:3102)
- Pierre-Robin sequence (HP:0000201): Pierre Robin malformation is a sequence of developmental malformations characterized by micrognathia (mandibular hypoplasia), glossoptosis and cleft palate. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Agenesis of maxillary lateral incisor (HP:0000690): Agenesis of one or more maxillary lateral incisor, comprising the maxillary lateral primary incisor and maxillary lateral secondary incisor. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Small thenar eminence (HP:0001245): Underdevelopment of the thenar eminence with reduced palmar soft tissue mass surrounding the base of the thumb. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Hoarse voice (HP:0001609): Hoarseness refers to a change in the pitch or quality of the voice, with the voice sounding weak, very breathy, scratchy, or husky. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Neonatal respiratory distress (HP:0002643): Respiratory difficulty as newborn. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Hypoplasia of the radius (HP:0002984): Underdevelopment of the radius. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Fibular hypoplasia (HP:0003038): Underdevelopment of the fibula. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Clinodactyly of the 5th finger (HP:0004209): Clinodactyly refers to a bending or curvature of the fifth finger in the radial direction (i.e., towards the 4th finger). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- 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: Frequent (HP:0040282). (ORPHA:3102)
- Mesomelic leg shortening (HP:0004987): Shortening of the middle parts of the leg in relation to the upper and terminal segments. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Mesomelic arm shortening (HP:0005011): Shortening of the middle parts of the arm in relation to the upper and terminal segments. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Short tibia (HP:0005736): Underdevelopment (reduced size) of the tibia. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Airway obstruction (HP:0006536): Obstruction of conducting airways of the lung. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- 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:3102)
- Short 5th finger (HP:0009237): Hypoplasia (congenital reduction in size) of the fifth finger, also known as the little finger. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Cleft mandible (HP:0010752): Midline deficiency of the mandible and some or all overlying tissues. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Hypoplasia of the calcaneus (HP:0012789): Underdevelopment of the heel bone. Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Agenesis of mandibular lateral incisor (HP:0200154). Evidence: TAS. Frequency: Frequent (HP:0040282). (ORPHA:3102)
- Bifid uvula (HP:0000193): Uvula separated into two parts most easily seen at the tip. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3102)
- Specific learning disability (HP:0001328): Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3102)
- Abnormal aryepiglottic fold morphology (HP:0008744): An abnormality of the aryepiglottic fold. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3102)
- Aplasia/Hypoplasia of the Epiglottis (HP:0010565): This term applies if the Epiglottis is absent or hypoplastic. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3102)
- Agenesis of premolar (HP:0011051): Agenesis of premolar tooth. Evidence: TAS. Frequency: Occasional (HP:0040283). (ORPHA:3102)
These phenotypes are associated with the disease Richieri Costa-Pereira syndrome (ORPHA:3102).