Human (105 sources):
Abnormal aldolase level,
Abnormal cerebellar vermis morphology,
Abnormal circulating creatine kinase concentration,
Abnormal cortical gyration,
Abnormal lactate dehydrogenase level,
Abnormality of neuronal migration,
Abnormality of the optic nerve,
Absent septum pellucidum,
Age-related nuclear cataract,
Agenesis of corpus callosum,
Amblyopia,
Anophthalmia,
Aplasia/Hypoplasia involving the skeletal musculature,
Areflexia,
Astigmatism,
Babinski sign,
Behavioral abnormality,
Bifid uvula,
Blurred vision,
Cataract,
Cerebellar atrophy,
Cerebellar hypoplasia,
Cerebral hemorrhage,
Chorioretinal dysplasia,
Cleft palate,
Cognitive impairment,
Corneal neovascularization,
Corneal opacity,
Cortical dysplasia,
Cryptorchidism,
Dandy-Walker malformation,
Dementia,
Developmental cataract,
Dilatation of the cerebral artery,
Ectopia pupillae,
Elevated circulating creatine kinase concentration,
Exotropia,
Facial paralysis,
Focal cortical dysplasia,
Glaucoma,
Global developmental delay,
Hematuria,
Hemiparesis,
Hemiplegia,
Hemolytic anemia,
Hydrocephalus,
Hyperintensity of cerebral white matter on MRI,
Hypermetropia,
Hypopigmentation of the fundus,
Hypoplasia of penis,
Hypoplasia of the iris,
Hyporeflexia,
Hypotonia,
Intellectual disability,
Iris coloboma,
Ischemic stroke,
Leukoencephalopathy,
Limb dystonia,
Lissencephaly,
Low-set ears,
Macrocephaly,
Macrogyria,
Metatarsus valgus,
Microcephaly,
Microcornea,
Microphthalmia,
Migraine,
Multiple renal cysts,
Muscle spasm,
Muscle weakness,
Muscular dystrophy,
Myopia,
Nephropathy,
Optic atrophy,
Pachygyria,
Peripapillary atrophy,
Polycoria,
Polymicrogyria,
Porencephalic cyst,
Posteriorly rotated ears,
Postural instability,
Protruding ear,
Raynaud phenomenon,
Reduced visual acuity,
Renal cyst,
Renal insufficiency,
Retinal arteriolar tortuosity,
Retinal detachment,
Retinal dysplasia,
Retinal dystrophy,
Retinal hemorrhage,
Retinal vascular tortuosity,
Schizencephaly,
Seizure,
Skeletal muscle atrophy,
Spasticity,
Specific learning disability,
Stroke,
Submucous cleft hard palate,
Supraventricular arrhythmia,
Tetraparesis,
Vascular dilatation,
Ventriculomegaly,
Visual field defect,
Visual loss
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