Human (106 sources):
Abnormal cerebellar vermis morphology,
Abnormal circulating aldolase concentration,
Abnormal circulating creatine kinase concentration,
Abnormal circulating lactate dehydrogenase concentration,
Abnormal cortical gyration,
Abnormality of connective tissue,
Abnormality of neuronal migration,
Abnormality of the nervous system,
Abnormality of the orbital region,
Abnormality of the tongue muscle,
Abnormal optic nerve morphology,
Abnormal periventricular white matter morphology,
Abnormal pons morphology,
Absent septum pellucidum,
Achilles tendon contracture,
Agenesis of corpus callosum,
Anophthalmia,
Aplasia/Hypoplasia involving the skeletal musculature,
Areflexia,
Axial muscle weakness,
Babinski sign,
Bifid uvula,
Calf muscle hypertrophy,
Cataract,
Cerebellar hypoplasia,
Cerebellar vermis hypoplasia,
Cerebral cortical atrophy,
Chorioretinal dysplasia,
Cleft palate,
Corneal opacity,
Cryptorchidism,
Dandy-Walker malformation,
Decreased cervical spine mobility,
Decreased light- and dark-adapted electroretinogram amplitude,
Elbow flexion contracture,
Elevated circulating creatine kinase concentration,
EMG: myopathic abnormalities,
Facial palsy,
Fatigable weakness of skeletal muscles,
Feeding difficulties,
Flexion contracture,
Floppy infant,
Generalized hypotonia,
Glaucoma,
Global developmental delay,
Hip dislocation,
Horizontal nystagmus,
Hydrocephalus,
Hypoglycosylation of alpha-dystroglycan,
Hypoplasia of penis,
Hypoplasia of the brainstem,
Hypoplasia of the corpus callosum,
Hypoplasia of the pons,
Hyporeflexia,
Hypotonia,
Intellectual disability,
Intellectual disability, profound,
Intellectual disability, severe,
Iris coloboma,
Joint contracture of the hand,
Limb-girdle muscle weakness,
Lissencephaly,
Lower limb hyperreflexia,
Low-set ears,
Macrocephaly,
Macroglossia,
Metatarsus valgus,
Microcephaly,
Microcornea,
Micropenis,
Microphthalmia,
Motor delay,
Multiple joint contractures,
Muscle weakness,
Muscular dystrophy,
Myopia,
Neuropathic spinal arthropathy,
obsolete Congenital muscular dystrophy,
obsolete Loss of ability to walk,
obsolete Macrogyria,
Optic atrophy,
Pachygyria,
Pigmentary retinopathy,
Polymicrogyria,
Poor gross motor coordination,
Poor speech,
Posteriorly rotated ears,
Protruding ear,
Proximal muscle weakness,
Reduced muscle fiber alpha dystroglycan,
Reduced tendon reflexes,
Respiratory insufficiency,
Retinal detachment,
Retinal dysplasia,
Retinal dystrophy,
Scoliosis,
Seizure,
Severe muscular hypotonia,
Short stature,
Skeletal muscle atrophy,
Skeletal muscle hypertrophy,
Specific learning disability,
Strabismus,
Submucous cleft hard palate,
Type II lissencephaly,
Ventriculomegaly
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