Asplenia, Ataxia, Bowing of the long bones, Cataract, Cerebellar hypoplasia, Cleft palate, Congenital hepatic fibrosis, Cryptorchidism, Cystic liver disease, Dandy-Walker malformation, Depressed nasal bridge, Depressed nasal ridge, Encephalocele, Flexion contracture, Full cheeks, Furrowed tongue, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, Hamartoma of tongue, Hydrocephalus, Hypertelorism, Inability to walk, Intellectual disability, Intellectual disability, severe, Lobar holoprosencephaly, Low-set ears, Low-set, posteriorly rotated ears, Male pseudohermaphroditism, Microcephaly, Microcornea, Micrognathia, Microphthalmia, Molar tooth sign on MRI, Multicystic kidney dysplasia, Occipital encephalocele, Oculomotor apraxia, Oligohydramnios, Optic atrophy, Pancreatic cysts, Pancreatic fibrosis, Polycystic kidney dysplasia, Postaxial foot polydactyly, Postaxial hand polydactyly, Preaxial hand polydactyly, Ptosis, Retinopathy, Retrognathia, Sclerocornea, Short palpebral fissure, Situs inversus totalis, Sloping forehead, Talipes equinovarus, True hermaphroditism, Ureteral duplication, Urethral atresia, Ventriculomegaly

embryo phenotype, embryonic lethality, incomplete penetrance, liver/biliary system phenotype, palatal shelf hypoplasia, prenatal lethality, complete penetrance, renal/urinary system phenotype, short presphenoid bone, small basisphenoid bone