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He had one febrile seizure following immunization in infancy. He had a normal male 46,XY karyotype. At age 14 years, he presented to the endocrinology clinic with lack of pubertal development, gynecomastia, and atrophic testes. His FSH and LH levels were 0.2 and SCH 900776 chemical structure 30 years of age, his height was 160.5?cm (?2.1 SD) and his weight 40.6?kg (?3.3 SD). He had severe microcephaly with an OFC of 49.1?cm (?4.6 SD). He had striking dysmorphic features, including a convex nasal ridge, highly arched eyebrows, apparent hypertelorism, micrognathia, and protruding ears with underdeveloped superior antihelix crus (Fig. 2). Ophthalmic examination showed reduced central corneal thickness, myopia, visual field defect, and advanced optic disc cupping with normal intraocular pressures and no retinal abnormalities. Ocular coherence tomography showed thinning of the superior and inferior rims in the right eye and early thinning of the inferior rim in the left eye. Additional features included a bifid AUY 922 uvula, Sprengel deformity, broad halluces, and psoriasis. He developed non-insulin-dependent diabetes at the age of 30 years and clinical examination showed upper motor neuron signs in his lower limbs, with pes cavus foot deformity, and increased tone and reflexes. Cranial MRI scan at 32 years of age showed several abnormal areas of high signal intensity involving both grey and white matter, most marked in the right parietal and postero-parietal region, but also in the right temporal and left parietal regions, associated with areas of high signal intensity within the periventricular white matter (Fig. 3C). Patient 2 (Figs. III-8 and 2B) is a 23-year-old female. She was born at 41 weeks gestation after a normal pregnancy with a birth weight of 3.12?kg. She was diagnosed in the newborn period with bilateral sensorineural deafness. She also had early developmental delay, and walked between 3 and 4 years of age. At age 15 years, she was diagnosed with hypogonadotropic hypogonadism (FSH 0.8?IU/L and LH 0.2?IU/L), due to a lack of pubertal development and primary amenorrhea. She had normal B3GAT3 external female genitalia. She shared many of the phenotypic features described in her brother, including facial dysmorphic features, a history of neonatal feeding problems, iron deficiency anemia, moderate learning difficulty, myopia, and a bifid uvula. She also had marked growth retardation, her height was 144.5?cm (?3 SD), weight 36.5?kg (?2.8 SD) and she had severe microcephaly with an OFC of 48?cm (?5.3 SD). From age 16 years she suffered from generalized motor and complex partial seizures. An EEG demonstrated focal epileptiform activity arising from the left temporal region.