Human (125 sources):
Abdominal wall muscle weakness,
Abnormal electroretinogram,
Abnormal eyelid morphology,
Abnormal hair quantity,
Abnormal helix morphology,
Abnormal hip bone morphology,
Abnormal thorax morphology,
Abnormality of retinal pigmentation,
Abnormality of the cardiovascular system,
Abnormality of the endocrine system,
Abnormality of the face,
Abnormality of the lymphatic system,
Abnormality of the nervous system,
Abnormality of the orbital region,
Abnormality of the respiratory system,
Abnormality of the skeletal system,
Abnormality of the upper urinary tract,
Abnormality of vision,
Aqueductal stenosis,
Arterial stenosis,
Astrocytoma,
Ataxia,
Attention deficit hyperactivity disorder,
Axillary freckling,
Cafe-au-lait spot,
Cataract,
Chorioretinal coloboma,
Chronic myelogenous leukemia,
Corneal opacity,
Cryptorchidism,
Cubitus valgus,
Delayed puberty,
Delayed speech and language development,
Depressed nasal bridge,
Downslanted palpebral fissures,
Dysphagia,
Epicanthus,
Freckling,
Generalized hyperpigmentation,
Genu valgum,
Genu varum,
Glaucoma,
Global developmental delay,
Headache,
Hearing abnormality,
Hearing impairment,
Heterochromia iridis,
Hydrocephalus,
Hypertelorism,
Hypertension,
Hypertrophic cardiomyopathy,
Hypopigmented macule,
Hypopigmented skin patches,
Hypsarrhythmia,
Inguinal freckling,
Intellectual disability,
Intellectual disability, mild,
Joint stiffness,
Juvenile myelomonocytic leukemia,
Kyphosis,
Leukemia,
Lisch nodules,
Low posterior hairline,
Low-set ears,
Low-set, posteriorly rotated ears,
Lower limb muscle weakness,
Macrocephaly,
Macule,
Malar flattening,
Melanocytic nevus,
Memory impairment,
Meningioma,
Midface retrusion,
Multiple cafe-au-lait spots,
Multiple lipomas,
Muscle weakness,
Myopia,
Neoplasm,
Neoplasm of the gastrointestinal tract,
Neoplasm of the skin,
Neuroblastoma,
Neurofibroma,
Neurofibrosarcoma,
Neurological speech impairment,
Optic nerve glioma,
Overgrowth,
Paraparesis,
Parathyroid adenoma,
Paresthesia,
Pectus excavatum,
Pectus excavatum of inferior sternum,
Pheochromocytoma,
Plexiform neurofibroma,
Posteriorly rotated ears,
Precocious puberty,
Prolonged bleeding time,
Prominent nasolabial fold,
Proptosis,
Ptosis,
Pulmonic stenosis,
Recurrent fractures,
Relative macrocephaly,
Renal artery stenosis,
Rhabdomyosarcoma,
Sarcoma,
Scoliosis,
Secundum atrial septal defect,
Seizure,
Short neck,
Short stature,
Skeletal dysplasia,
Slender long bone,
Specific learning disability,
Spina bifida,
Spinal cord tumor,
Spinal neurofibromas,
Subcutaneous nodule,
Superior pectus carinatum,
Symmetric spinal nerve root neurofibromas,
Tall stature,
Thick vermilion border,
Tibial pseudarthrosis,
Urinary tract neoplasm,
Visual impairment,
Webbed neck
[+]
|