Human (129 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,
Anteverted nares,
Aplasia/Hypoplasia of fingers,
Aplasia/Hypoplasia of the iris,
Aplasia/Hypoplasia of the radius,
Aplasia/Hypoplasia of the uvula,
Arteriovenous malformation,
Astigmatism,
Atrial septal defect,
Azoospermia,
Bicornuate uterus,
Blepharophimosis,
Breast carcinoma,
Cataract,
Choanal atresia,
Chromosome breakage,
Cleft palate,
Clinodactyly,
Clinodactyly of the 5th finger,
Clubbing of toes,
Coarse facial features,
Cranial nerve paralysis,
Cryptorchidism,
Decreased fertility in males,
Delayed speech and language development,
Dental malocclusion,
Dolichocephaly,
Duodenal stenosis,
Epicanthus,
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,
Long eyelashes,
Low anterior hairline,
Macrodontia,
Meckel diverticulum,
Melanoma,
Microcephaly,
Micrognathia,
Microphthalmia,
Multiple cafe-au-lait spots,
Myelodysplasia,
Narrow palate,
Neoplasm,
Neoplasm of the pancreas,
Nystagmus,
Oligohydramnios,
Ovarian neoplasm,
Patent ductus arteriosus,
Pes planus,
Primary peritoneal carcinoma,
Prominent nasal bridge,
Proptosis,
Prostate cancer,
Proximal placement of thumb,
Ptosis,
Pyridoxine-responsive sideroblastic anemia,
Recurrent urinary tract infections,
Reduced bone mineral density,
Renal hypoplasia/aplasia,
Renal insufficiency,
Scoliosis,
Short palpebral fissure,
Short stature,
Sloping forehead,
Sparse hair,
Spina bifida,
Strabismus,
Tetralogy of Fallot,
Thick upper lip vermilion,
Thrombocytopenia,
Toe syndactyly,
Tracheoesophageal fistula,
Triphalangeal thumb,
Umbilical hernia,
Upslanted palpebral fissure,
Ventriculomegaly,
Visual impairment,
Weight loss,
obsolete External ear malformation
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