Human (65 sources):
Abnormal pinna morphology,
Abnormal rib morphology,
Abnormality of epiphysis morphology,
Abnormality of the outer ear,
Anotia,
Aplasia/Hypoplasia of the patella,
Aplastic clavicle,
Atresia of the external auditory canal,
Bifid uvula,
Birth length less than 3rd percentile,
Breast aplasia,
Breast hypoplasia,
Bronchomalacia,
Camptodactyly,
Camptodactyly of finger,
Cleft palate,
Clinodactyly of the 5th finger,
Clitoral hypertrophy,
Clitoral hypoplasia,
Craniosynostosis,
Cryptorchidism,
Delayed skeletal maturation,
Dolichocephaly,
Dyspnea,
Elbow dislocation,
Epispadias,
Failure to thrive,
Feeding difficulties,
Gastroesophageal reflux,
Global developmental delay,
Growth delay,
Hearing impairment,
High pitched voice,
High, narrow palate,
Hypoplasia of penis,
Hypoplasia of the maxilla,
Hypoplastic labia majora,
Hypoplastic labia minora,
Hypospadias,
Intellectual disability,
Intrauterine growth retardation,
Joint hypermobility,
Labial hypoplasia,
Low-set ears,
Mandibular aplasia,
Microcephaly,
Micrognathia,
Microtia,
Microtia, third degree,
Narrow mouth,
Patellar aplasia,
Posteriorly rotated ears,
Respiratory distress,
Respiratory insufficiency,
Retrognathia,
Severe short stature,
Short stature,
Slender long bone,
Smooth philtrum,
Specific learning disability,
Submucous cleft hard palate,
Thick vermilion border,
Tracheomalacia,
Underdeveloped nasal alae,
obsolete Joint hyperflexibility
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.