Human (123 sources):
Abnormal aortic morphology,
Abnormal aortic valve morphology,
Abnormal cardiac septum morphology,
Abnormal carotid artery morphology,
Abnormal eyelid morphology,
Abnormal fallopian tube morphology,
Abnormal foot morphology,
Abnormal localization of kidney,
Abnormal nervous system morphology,
Abnormal preputium morphology,
Abnormal renal morphology,
Abnormal testis morphology,
Abnormal thumb morphology,
Abnormality of blood and blood-forming tissues,
Abnormality of chromosome stability,
Abnormality of femur morphology,
Abnormality of skin pigmentation,
Abnormality of the hypothalamus-pituitary axis,
Abnormality of the liver,
Abnormality of the orbital region,
Abnormality of the ulna,
Abnormality of the upper limb,
Abnormality of the urinary system,
Abnormality of the uterus,
Abnormality of vision,
Absent testis,
Aganglionic megacolon,
Almond-shaped palpebral fissure,
Anal atresia,
Anemia,
Aplasia/Hypoplasia of fingers,
Aplasia/Hypoplasia of the iris,
Aplasia/Hypoplasia of the radius,
Aplasia/Hypoplasia of the uvula,
Aplastic anemia,
Arteriovenous malformation,
Astigmatism,
Atrial septal defect,
Azoospermia,
Bicornuate uterus,
Breast carcinoma,
Cafe-au-lait spot,
Cataract,
Choanal atresia,
Chromosomal breakage induced by crosslinking agents,
Cleft palate,
Clinodactyly of the 5th finger,
Clubbing of toes,
Cranial nerve paralysis,
Cryptorchidism,
Decreased fertility in males,
Dolichocephaly,
Duodenal stenosis,
Epicanthus,
External ear malformation,
Facial asymmetry,
Failure to thrive,
Finger syndactyly,
Frontal bossing,
Global developmental delay,
Growth delay,
Hearing abnormality,
Hearing impairment,
High palate,
Hip dislocation,
Hydrocephalus,
Hydroureter,
Hyperreflexia,
Hypertelorism,
Hypertrophic cardiomyopathy,
Hypogonadism,
Hypopigmented skin patches,
Hypoplasia of the ulna,
Hypospadias,
Intellectual disability,
Intrauterine growth retardation,
Irregular hyperpigmentation,
Leukopenia,
Meckel diverticulum,
Medulloblastoma,
Melanoma,
Microcephaly,
Micrognathia,
Microphthalmia,
Multiple cafe-au-lait spots,
Myelodysplasia,
Neoplasm,
Neoplasm of the pancreas,
Nephroblastoma,
Neuroblastoma,
Nystagmus,
Oligohydramnios,
Ovarian neoplasm,
Patent ductus arteriosus,
Pes planus,
Primary peritoneal carcinoma,
Proptosis,
Prostate cancer,
Ptosis,
Pyridoxine-responsive sideroblastic anemia,
Recurrent urinary tract infections,
Reduced bone mineral density,
Renal hypoplasia/aplasia,
Renal insufficiency,
Scoliosis,
Short neck,
Short palpebral fissure,
Short stature,
Short thumb,
Sloping forehead,
Spina bifida,
Strabismus,
Tetralogy of Fallot,
Thrombocytopenia,
Toe syndactyly,
Tracheoesophageal fistula,
Triphalangeal thumb,
Umbilical hernia,
Upslanted palpebral fissure,
Ventricular septal defect,
Ventriculomegaly,
Visual impairment,
Weight loss
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