| {"0": "Abnormality of the hypothalamus pituitary axis", "1": "Abnormality of the pituitary gland", "2": "Blepharophimosis", "3": "Lissencephaly", "4": "Sloping forehead", "5": "Abnormal growth hormone level", "6": "Tented upper lip vermilion", "7": "Cupped ear", "8": "Anophthalmia", "9": "Male hypogonadism", "10": "Aplasia hypoplasia of the skin", "11": "Gray matter heterotopia", "12": "Thoracolumbar scoliosis", "13": "Hypopituitarism", "14": "Abnormality of the antihelix", "15": "Cutaneous syndactyly", "16": "Abnormal circulating nitrogen compound concentration", "17": "Hyperammonemia", "18": "Abnormality of the pulmonary vasculature", "19": "Abnormality of the septum pellucidum", "20": "Absent septum pellucidum", "21": "Prenatal movement abnormality", "22": "Retinal dystrophy", "23": "Decreased activity of mitochondrial complex i", "24": "Thin skin", "25": "Intellectual disability progressive", "26": "Short palpebral fissure", "27": "Aplasia hypoplasia of the cerebellar vermis", "28": "Abnormality of the scrotum", "29": "Lethargy", "30": "Abnormal chorioretinal morphology", "31": "Gynecomastia", "32": "Disproportionate short limb short stature", "33": "Abnormality of the testis size", "34": "Optic nerve hypoplasia", "35": "Abnormality of the endometrium", "36": "Abnormal activity of mitochondrial respiratory chain", "37": "Anemia of inadequate production", "38": "Limb pain", "39": "Aortic aneurysm", "40": "Short chin", "41": "Decreased testicular size", "42": "Multifactorial inheritance", "43": "Dolichocephaly", "44": "Abnormal choroid morphology", "45": "Cortical dysplasia", "46": "Aplasia hypoplasia of the optic nerve", "47": "Large for gestational age", "48": "Abnormal shape of the palpebral fissure", "49": "Abnormal renal medulla morphology"} |