Human (82 sources):
Abnormal adipose tissue morphology,
Abnormal chorioretinal morphology,
Abnormal female external genitalia morphology,
Abnormality of the dentition,
Abnormality of the hand,
Abnormality of the menstrual cycle,
Abnormality of the urethra,
Acanthosis nigricans,
Accelerated skeletal maturation,
Aplasia/Hypoplasia of the cerebellum,
Asthma,
Atherosclerosis,
Autism,
Blindness,
Cataract,
Chronic active hepatitis,
Chronic hepatic failure,
Chronic otitis media,
Cirrhosis,
Compulsive behaviors,
Cone/cone-rod dystrophy,
Congestive heart failure,
Constriction of peripheral visual field,
Decreased HDL cholesterol concentration,
Decreased response to growth hormone stimulation test,
Decreased testicular size,
Deeply set eye,
Depression,
Diabetes insipidus,
Dilated cardiomyopathy,
Elevated circulating hepatic transaminase concentration,
Generalized hirsutism,
Gingivitis,
Global developmental delay,
Glomerulopathy,
Gynecomastia,
Hepatic steatosis,
Hepatomegaly,
Hypergonadotropic hypogonadism,
Hyperinsulinemia,
Hyperostosis frontalis interna,
Hypertension,
Hypertriglyceridemia,
Hyperuricemia,
Hypothyroidism,
Insulin resistance,
Insulin-resistant diabetes mellitus,
Intellectual disability,
Kyphosis,
Male hypogonadism,
Multinodular goiter,
Nephritis,
Nephrocalcinosis,
Nystagmus,
Otitis media,
Pes planus,
Photophobia,
Pigmentary retinopathy,
Polycystic ovaries,
Portal hypertension,
Precocious puberty,
Progressive sensorineural hearing impairment,
Progressive visual loss,
Pulmonary arterial hypertension,
Pulmonary fibrosis,
Recurrent pneumonia,
Recurrent respiratory infections,
Renal insufficiency,
Renovascular hypertension,
Respiratory insufficiency,
Round face,
Scoliosis,
Seizure,
Short stature,
Splenomegaly,
Subcapsular cataract,
Truncal obesity,
Tubulointerstitial nephritis,
Type II diabetes mellitus,
Vesicoureteral reflux,
Visual loss,
obsolete Hypotrichosis
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