Basal cell carcinoma, Bifid ribs, Bilateral sensorineural hearing impairment, Brachycephaly, Brachydactyly, Bridged sella turcica, Broad face, Calcification of falx cerebri, Cardiac fibroma, Cardiac rhabdomyoma, Carious teeth, Cataract, Cerebellar ataxia associated with quadrupedal gait, Cerebellar calcifications, Cerebellar cyst, Cerebellar hemorrhage, Cerebellar medulloblastoma, Cerebral calcification, Cleft palate, Cleft upper lip, Coarse facial features, Cognitive impairment, Cryptorchidism, Delayed cranial suture closure, Diplopia, Down-sloping shoulders, Dysmetria, Elevated circulating hepatic transaminase concentration, Epicanthus, Frontal bossing, Glaucoma, Global developmental delay, Hamartomatous stomach polyps, Headache, Hemivertebrae, Hydrocephalus, Hypertelorism, Hypogonadotropic hypogonadism, Increased intracranial pressure, Intellectual disability, Intention tremor, Iris coloboma, Irregular ossification of hand bones, Irritability, Kyphoscoliosis, Lethargy, Macrocephaly, Mandibular prognathia, Medulloblastoma, Melanocytic nevus, Microphthalmia, Milia, Motor delay, Nausea and vomiting, Neoplasm, Neoplasm of the lung, Neuroblastoma, Odontogenic keratocysts of the jaw, Orbital cyst, Ovarian carcinoma, Ovarian fibroma, Palmar pits, Parietal bossing, Plantar pits, Polydactyly, Progressive cerebellar ataxia, Progressive macrocephaly, Progressive visual loss, Rhabdomyoma, Scoliosis, Short 4th metacarpal, Short distal phalanx of the thumb, Short ribs, Skin tags, Spina bifida, Spinal cord tumor, Sprengel anomaly, Strabismus, Supernumerary ribs, Telecanthus, Total ophthalmoplegia, Vertebral fusion, Vertebral wedging, Vertigo, Wide nasal bridge

no abnormal phenotype detected, reproductive system phenotype, skin lesions, thick ventricular wall