Carious teeth, Cellular immunodeficiency, Cerebellar atrophy, Congenital hypoparathyroidism, Convex nasal ridge, Corneal opacity, Cortical thickening of long bone diaphyses, Cryptorchidism, Decreased response to growth hormone stimulation test, Decreased skull ossification, Deeply set eye, Delayed closure of the anterior fontanelle, Delayed cranial suture closure, Delayed myelination, Delayed skeletal maturation, Depressed nasal bridge, Developmental regression, Difficulty standing, Distal amyotrophy, Dysarthria, EMG: chronic denervation signs, Encephalopathy, Failure to thrive, Foot dorsiflexor weakness, Frontal bossing, Full cheeks, Generalized hypotonia, Global developmental delay, Growth delay, High forehead, Hyperphosphatemia, Hypertelorism, Hypocalcemia, Hypocalcemic seizures, Hypocalcemic tetany, Hypomagnesemia, Hypoparathyroidism, Hypoplasia of penis, Hypoplasia of the corpus callosum, Intellectual disability, Intestinal obstruction, Intrauterine growth retardation, Iron accumulation in substantia nigra, Long clavicles, Long philtrum, Low-set ears, Low-set, posteriorly rotated ears, Microcephaly, Micrognathia, Micropenis, Myopathy, Optic atrophy, Patchy osteosclerosis, Peripheral axonal neuropathy, Posteriorly rotated ears, Progressive encephalopathy, Progressive spastic paraparesis, Prominent forehead, Proportionate short stature, Recurrent bacterial infections, Recurrent respiratory infections, Scoliosis, Seizure, Severe intrauterine growth retardation, Severe muscular hypotonia, Short foot, Short palm, Short stature, Slender long bone, Small hand, Spastic ataxia, Spastic tetraparesis, Spastic tetraplegia, Spinal canal stenosis, Spinal muscular atrophy, Stenosis of the medullary cavity of the long bones, Tetany, Thin clavicles, Thin long bone diaphyses, Thin ribs, Thin vermilion border, Ventriculomegaly, obsolete External ear malformation