Amblyopia, Anal atresia, Arachnodactyly, Asplenia, Bilateral cryptorchidism, Bilateral single transverse palmar creases, Blepharospasm, Brachycephaly, Brachydactyly, Breast carcinoma, Broad forehead, Broad hallux, Broad neck, Broad thumb, Buphthalmos, Cerebellar hypoplasia, Choanal atresia, Cleft of chin, Cleft palate, Clinodactyly of the 5th finger, Conductive hearing impairment, Convex nasal ridge, Coronal craniosynostosis, Craniosynostosis, Cryptorchidism, Cupped ear, Cutaneous syndactyly, Delayed cranial suture closure, Depressed nasal bridge, Dolichocephaly, Duplication of phalanx of hallux, Epicanthus, External ear malformation, Facial asymmetry, Finger syndactyly, Flat face, Flat forehead, Frontal bossing, Gastroesophageal reflux, Generalized hirsutism, Global developmental delay, Hallux valgus, Hearing impairment, High forehead, High palate, Hyperlordosis, Hypertelorism, Hypoplasia of the maxilla, Hypotelorism, Increased intracranial pressure, Intellectual disability, Intellectual disability, moderate, Lambdoidal craniosynostosis, Long nose, Low anterior hairline, Low-set ears, Macrocephaly, Malar flattening, Metacarpal synostosis, Micrognathia, Microtia, Midface retrusion, Migraine, Narrow internal auditory canal, Narrow mouth, Narrow nose, Narrow palate, Open bite, Optic atrophy, Overfolded helix, Oxycephaly, Parietal foramina, Partial duplication of the distal phalanx of the 2nd finger, Partial duplication of the distal phalanx of the 3rd finger, Plagiocephaly, Prominent crus of helix, Prominent metopic ridge, Prominent nasal bridge, Prominent occiput, Proptosis, Proximal radio-ulnar synostosis, Ptosis, Radioulnar synostosis, Scaphocephaly, Scoliosis, Seizure, Sensorineural hearing impairment, Shallow orbits, Short clavicles, Short columella, Short philtrum, Short stature, Skull asymmetry, Sleep apnea, Strabismus, Syndactyly, Toe syndactyly, Triphalangeal thumb, Turricephaly, Underdeveloped nasal alae, Underdeveloped supraorbital ridges, Upper eyelid coloboma, Visual field defect, Wide anterior fontanel, Wide nasal bridge, Widow's peak

decreased bone trabecula number, decreased trabecular bone thickness, decreased trabecular bone volume, embryonic lethality, complete penetrance, enlarged interparietal bone, increased width of hypertrophic chondrocyte zone, neonatal lethality, complete penetrance, nervous system phenotype, open neural tube, premature endochondral bone ossification, prenatal lethality, incomplete penetrance, short temporal bone squamous part, skeleton phenotype, temporal bone hypoplasia