Absent earlobe, Acanthosis nigricans, Action tremor, Agenesis of corpus callosum, Anteverted nares, Aplasia/Hypoplasia of the earlobes, Aplasia/Hypoplasia of the nails, Arachnodactyly, Ataxia, Atlantoaxial abnormality, Autonomic bladder dysfunction, Babinski sign, Blue sclerae, Broad eyebrow, Broad forehead, CNS hypomyelination, Caesarian section, Camptodactyly of finger, Cataract, Cerebellar atrophy, Cerebellar hypoplasia, Cerebral cortical atrophy, Cervical vertebral dysplasia, Chiari malformation, Chiari type I malformation, Clumsiness, Confusion, Congenital generalized lipodystrophy, Congenital malformation of the left heart, Convex nasal ridge, Corneal opacity, Cranial asymmetry, Cryptorchidism, Dandy-Walker malformation, Decreased response to growth hormone stimulation test, Deeply set eye, Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Delayed puberty, Dermal translucency, Developmental regression, Dilatation of renal calices, Downslanted palpebral fissures, Downturned corners of mouth, Drooling, Dysarthria, Dysmetria, Dysphagia, Dysplastic pulmonary valve, Dystonia, Ectropion, Entropion, Failure to thrive, Feeding difficulties, Fever, Flexion contracture, Frontal bossing, Generalized amyotrophy, Generalized hypotonia, Global developmental delay, Growth delay, Gynecomastia, Hearing abnormality, Hepatic steatosis, High myoinositol in brain by MRS, Hip dysplasia, Hirsutism, Hydrocephalus, Hydronephrosis, Hypergonadotropic hypogonadism, Hypermetropia, Hyperreflexia, Hypertelorism, Hyperthyroidism, Hypertriglyceridemia, Hypodontia, Hypogonadotropic hypogonadism, Hypoplasia of the corpus callosum, Hypoplastic ilia, Hypospadias, Hypotonia, Impaired distal proprioception, Impaired vibration sensation in the lower limbs, Increased circulating prolactin concentration, Increased serum estradiol, Increased serum testosterone level, Increased subcutaneous truncal adipose tissue, Intellectual disability, Intellectual disability, mild, Intellectual disability, moderate, Intention tremor, Intrauterine growth retardation, Irregular sclerotic endplates, Joint hypermobility, Kyphoscoliosis, Lagopthalmos, Large beaked nose, Large hands, Laryngomalacia, Leukodystrophy, Limb hypertonia, Lipoatrophy, Long foot, Long penis, Long toe, Loss of facial adipose tissue, Low-set ears, Macrocephaly, Malar flattening, Micrognathia, Muscle weakness, Myalgia, Myopia, Narrow mouth, Narrow nasal ridge, Natal tooth, Nystagmus, Oligodontia, Optic atrophy, Optic disc hypoplasia, Osteopenia, Parietal bossing, Peripheral neuropathy, Pigmentary retinopathy, Pointed chin, Polymicrogyria, Positive Romberg sign, Posteriorly rotated ears, Postural tremor, Premature loss of teeth, Premature skin wrinkling, Progeroid facial appearance, Prominent scalp veins, Pulmonic stenosis, Recurrent otitis media, Recurrent respiratory infections, Recurrent skin infections, Recurrent urinary tract infections, Reduced subcutaneous adipose tissue, Relative macrocephaly, Retrognathia, Scoliosis, Seizure, Severe intrauterine growth retardation, Short femur, Short humerus, Short philtrum, Short stature, Skeletal muscle hypertrophy, Slender build, Small nail, Sparse eyelashes, Sparse hair, Sparse scalp hair, Spastic dysarthria, Spasticity, Submucous cleft soft palate, Sudanophilic leukodystrophy, Synophrys, Synovitis, Thickened calvaria, Thin long bone diaphyses, Thin ribs, Thin skin, Thin upper lip vermilion, Tremor, Triangular face, Truncal ataxia, Type II diabetes mellitus, Upper motor neuron dysfunction, Upslanted palpebral fissure, Vertebral hypoplasia, Vertical supranuclear gaze palsy, Vesicoureteral reflux, Wide nasal ridge, Wide penis, Widely patent fontanelles and sutures, obsolete Focal seizures, afebril, obsolete Hypotrichosis, obsolete Sparse and thin eyebrow