Human (131 sources):
Abnormal electroretinogram,
Abnormal form of the vertebral bodies,
Abnormal hair morphology,
Abnormal intestine morphology,
Abnormal nervous system morphology,
Abnormal rib cage morphology,
Abnormal sacrum morphology,
Abnormal skull morphology,
Abnormal thorax morphology,
Abnormality of extrapyramidal motor function,
Abnormality of the face,
Abnormality of the kidney,
Abnormality of the metaphysis,
Abnormality of the middle ear ossicles,
Abnormality of the musculature,
Abnormality of the orbital region,
Abnormality of the skin,
Abnormality of visual evoked potentials,
Amaurosis fugax,
Aphasia,
Arachnoid cyst,
Atherosclerosis,
Atresia of the external auditory canal,
Behavioral abnormality,
Benign neoplasm of the central nervous system,
Biconcave vertebral bodies,
Bicuspid aortic valve,
Bone cyst,
Cerebral cortical atrophy,
Cerebral ischemia,
Chiari malformation,
Chiari type I malformation,
Chondrocalcinosis,
Coarse hair,
Coma,
Conductive hearing impairment,
Confusion,
Cranial nerve paralysis,
Craniofacial hyperostosis,
Cryptorchidism,
Dementia,
Dental crowding,
Depression,
Developmental regression,
Dolichocephaly,
Downslanted palpebral fissures,
Dural ectasia,
EEG abnormality,
Elevated circulating creatine kinase concentration,
Epicanthus,
Fever,
Fibroma,
Gait disturbance,
Generalized hypotonia,
Gingival fibromatosis,
Global developmental delay,
Headache,
Hearing impairment,
Hemiplegia,
Hemiplegia/hemiparesis,
High palate,
High, narrow palate,
Hypercalcemia,
Hyperlordosis,
Hypertelorism,
Hypertension,
Hypoglycemia,
Hypotonia,
Impaired pain sensation,
Intestinal obstruction,
Iris coloboma,
Irregular hyperpigmentation,
Joint hypermobility,
Kyphosis,
Leukoencephalopathy,
Limitation of joint mobility,
Long philtrum,
Low posterior hairline,
Low-set ears,
Malar flattening,
Memory impairment,
Meningocele,
Micrognathia,
Migraine,
Motor delay,
Narrow face,
Neoplasm of the lung,
Neoplasm of the pancreas,
Neoplasm of the skin,
Nonarteritic anterior ischemic optic neuropathy,
Osteolysis,
Patent ductus arteriosus,
Pectus excavatum,
Peripheral neuropathy,
Platybasia,
Posteriorly rotated ears,
Prominent metopic ridge,
Proptosis,
Pseudobulbar paralysis,
Ptosis,
Recurrent pneumonia,
Recurrent subcortical infarcts,
Retinal arteriolar tortuosity,
Sarcoma,
Sclerosis of skull base,
Scoliosis,
Seizure,
Sensorineural hearing impairment,
Sensory neuropathy,
Short nasal bridge,
Short neck,
Short stature,
Skin ulcer,
Smooth philtrum,
Spasticity,
Stroke,
Subcortical dementia,
Subcutaneous hemorrhage,
Subcutaneous nodule,
Subdural hemorrhage,
Syringomyelia,
Tracheoesophageal fistula,
Umbilical hernia,
Urinary incontinence,
Varicose veins,
Ventricular septal defect,
Vertebral fusion,
Visual impairment,
Visual loss,
Wormian bones,
obsolete Joint hyperflexibility
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