Aplasia/Hypoplasia of the cerebellar vermis, Aplasia/Hypoplasia of the corpus callosum, Apnea, Ataxia, Autistic behavior, Behavioral abnormality, Biparietal narrowing, Blindness, Brainstem dysplasia, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Cleft palate, Cognitive impairment, Coloboma, Dandy-Walker malformation, Deeply set eye, Delayed gross motor development, Dilated fourth ventricle, Downslanted palpebral fissures, Dyspnea, Elongated superior cerebellar peduncle, Encephalocele, Epicanthus, Episodic tachypnea, Feeding difficulties, Feeding difficulties in infancy, Foot polydactyly, Gait disturbance, Generalized hypotonia, Global developmental delay, Gray matter heterotopia, Growth delay, Hand polydactyly, Hepatic fibrosis, Hepatic steatosis, Hepatomegaly, High forehead, Highly arched eyebrow, Hydrocephalus, Hypertelorism, Hypertension, Hypometric saccades, Hypoplasia of the brainstem, Hypotonia, Intellectual disability, Intellectual disability, progressive, Intellectual disability, severe, Iris coloboma, Irritability, Long face, Low-set ears, Low-set, posteriorly rotated ears, Malar flattening, Microphthalmia, Molar tooth sign on MRI, Morning glory anomaly, Nephronophthisis, Nephropathy, Nystagmus, Occipital meningocele, Oculomotor apraxia, Open mouth, Orofacial cleft, Polycystic kidney dysplasia, Polymicrogyria, Postaxial foot polydactyly, Postaxial hand polydactyly, Postaxial polydactyly, Posteriorly rotated ears, Prominent nasal bridge, Psychomotor retardation, Ptosis, Renal corticomedullary cysts, Renal cyst, Renal insufficiency, Renal tubular atrophy, Retinal dystrophy, Scoliosis, Seizure, Short philtrum, Situs inversus totalis, Stage 5 chronic kidney disease, Strabismus, Tachypnea, Tented upper lip vermilion, Thickened superior cerebellar peduncle, Tremor, Tubulointerstitial fibrosis, Undetectable electroretinogram, Visual impairment, Wide mouth

increased respiratory quotient, preweaning lethality, complete penetrance, small adrenal glands