Human (88 sources):
Abdominal distention,
Abnormal cardiovascular system morphology,
Abnormal enchondral ossification,
Abnormal foot bone ossification,
Abnormal hand bone ossification,
Abnormality of the femoral metaphysis,
Abnormality of the metaphysis,
Anteverted nares,
Aplasia/Hypoplasia of the lungs,
Barrel-shaped chest,
Biconvex vertebral bodies,
Bowing of the long bones,
Brachydactyly,
Broad clavicles,
Cone-shaped epiphyses of the phalanges of the hand,
Cone-shaped epiphysis,
Coronal cleft vertebrae,
Coxa valga,
Cystic hygroma,
Decreased skull ossification,
Delayed eruption of teeth,
Delayed ossification of carpal bones,
Dentinogenesis imperfecta,
Depressed nasal bridge,
Disproportionate short-trunk short stature,
Femoral hernia,
Flared iliac wing,
Flat acetabular roof,
Flat face,
Frontal bossing,
Genu recurvatum,
Genu varum,
Hydrops fetalis,
Hypoplasia of the radius,
Hypoplastic ischia,
Hypoplastic scapulae,
Irregular epiphyses,
Joint hypermobility,
Lethal skeletal dysplasia,
Long philtrum,
Macrocephaly,
Mesomelia,
Mesomelic short stature,
Metaphyseal cupping,
Metaphyseal widening,
Micrognathia,
Micromelia,
Motor delay,
Multiple rib fractures,
Narrow chest,
Narrow face,
Nephronophthisis,
Osteoporosis,
Patent ductus arteriosus,
Pectus carinatum,
Platyspondyly,
Polycystic kidney dysplasia,
Polyhydramnios,
Prominent forehead,
Protuberant abdomen,
Pulmonary hypoplasia,
Recurrent fractures,
Recurrent respiratory infections,
Relative macrocephaly,
Respiratory distress,
Retrognathia,
Scoliosis,
Severe short stature,
Short clavicles,
Short foot,
Short long bone,
Short metacarpal,
Short neck,
Short nose,
Short palm,
Short phalanx of finger,
Short ribs,
Short stature,
Short thorax,
Small epiphyses,
Spondylometaphyseal dysplasia,
Square pelvis bone,
Strabismus,
Thickened nuchal skin fold,
Umbilical hernia,
Unossified vertebral bodies,
obsolete Beaded ribs,
obsolete Joint hyperflexibility
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These phenotypes are associated with this gene with a has phenotype relation via Monarch.