Abnormality of neuronal migration, Abnormality of the respiratory system, Abnormality of the sense of smell, Absent septum pellucidum, Accessory oral frenulum, Agenesis of corpus callosum, Anal atresia, Anencephaly, Anophthalmia, Aplasia/Hypoplasia of the cerebellum, Aplasia/Hypoplasia of the corpus callosum, Apnea, Arrhinencephaly, Ataxia, Bifid distal phalanx of the thumb, Bifid uvula, Bilateral cryptorchidism, Biparietal narrowing, Brachydactyly, Brain atrophy, Broad forehead, Broad nasal tip, Central Y-shaped metacarpal, Cerebellar vermis hypoplasia, Cleft palate, Cleft upper lip, Clinodactyly, Clinodactyly of the 5th finger, Coloboma, Conductive hearing impairment, Congenital diaphragmatic hernia, Cryptorchidism, Dandy-Walker malformation, Deeply set eye, Downslanted palpebral fissures, Duplication of phalanx of hallux, Duplication of thumb phalanx, Epicanthus, Episodic tachypnea, Esotropia, Failure to thrive, Feeding difficulties in infancy, Finger clinodactyly, Finger syndactyly, Foot polydactyly, Frontal bossing, Gait disturbance, Generalized hypotonia, Genu valgum, Gingival cleft, Global developmental delay, Growth delay, Hamartoma of tongue, Hand polydactyly, Hearing impairment, High palate, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypopigmentation of the fundus, Hypoplasia of olfactory tract, Hypoplasia of teeth, Hypospadias, Hypothalamic hamartoma, Hypotonia, Intellectual disability, Intellectual disability, severe, Intracranial cystic lesion, Joint dislocation, Laryngomalacia, Lobulated tongue, Long face, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Lymphedema, Macrocephaly, Malar flattening, Mesoaxial hand polydactyly, Mesoaxial polydactyly, Micrognathia, Micromelia, Micropenis, Microphthalmia, Microretrognathia, Midline notch of upper alveolar ridge, Molar tooth sign on MRI, Motor delay, Multiple epiphyseal dysplasia, Nystagmus, Obesity, Open mouth, Optic atrophy, Osteoarthritis, Pectus carinatum, Pectus excavatum, Polyhydramnios, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Posteriorly rotated ears, Preauricular skin tag, Preaxial foot polydactyly, Preaxial hand polydactyly, Preaxial polydactyly, Premature birth, Prominent forehead, Prominent nasal bridge, Prominent occiput, Pulmonary valve defects, Radial deviation of finger, Rectovaginal fistula, Renal agenesis, Renal dysplasia, Renal hypoplasia/aplasia, Retrognathia, Seizure, Sensorineural hearing impairment, Short neck, Short nose, Short philtrum, Short stature, Sloping forehead, Smooth philtrum, Strabismus, Submucous cleft hard palate, Syndactyly, Tall stature, Tapered finger, Thin vermilion border, Toe syndactyly, Tongue nodules, Tracheal atresia, Tremor, Triangular mouth, Triphalangeal thumb, Umbilical hernia, Unilateral cleft lip, Wide anterior fontanel, Wide nasal bridge

diaphragm muscle hyperplasia, increased motor neuron number, neonatal lethality, complete penetrance, perinatal lethality, complete penetrance, thick diaphragm muscle