Human (82 sources):
Abnormal cerebellar vermis morphology,
Abnormal circulating aldolase concentration,
Abnormal circulating creatine kinase concentration,
Abnormal circulating lactate dehydrogenase concentration,
Abnormal cortical gyration,
Abnormality of neuronal migration,
Abnormal optic nerve morphology,
Absent septum pellucidum,
Absent speech,
Agenesis of corpus callosum,
Agyria,
Ankle flexion contracture,
Anophthalmia,
Aplasia/Hypoplasia involving the skeletal musculature,
Areflexia,
Bifid uvula,
Buphthalmos,
Calf muscle hypertrophy,
Calf muscle pseudohypertrophy,
Cataract,
Cerebellar cyst,
Cerebellar hypoplasia,
Cerebellar vermis hypoplasia,
Cerebral calcification,
Chorioretinal dysplasia,
Cleft palate,
Corneal opacity,
Cryptorchidism,
Dandy-Walker malformation,
Delayed speech and language development,
Difficulty climbing stairs,
Elevated circulating creatine kinase concentration,
Generalized hypotonia,
Glaucoma,
Global developmental delay,
Gowers sign,
Hydrocephalus,
Hypoglycosylation of alpha-dystroglycan,
Hypoplasia of penis,
Hypoplasia of the corpus callosum,
Hyporeflexia,
Hypotonia,
Intellectual disability,
Intellectual disability, mild,
Intellectual disability, severe,
Iris coloboma,
Leukodystrophy,
Limb-girdle muscle weakness,
Limb-girdle muscular dystrophy,
Lissencephaly,
Low-set ears,
Lumbar hyperlordosis,
Macrocephaly,
Metatarsus valgus,
Microcephaly,
Microcornea,
Microphthalmia,
Motor delay,
Muscle weakness,
Muscular dystrophy,
Myopia,
obsolete Difficulty walking,
obsolete Macrogyria,
Optic atrophy,
Pachygyria,
Polymicrogyria,
Poor head control,
Poor speech,
Posteriorly rotated ears,
Protruding ear,
Reduced muscle fiber alpha dystroglycan,
Respiratory insufficiency,
Retinal detachment,
Retinal dysplasia,
Retinal dystrophy,
Seizure,
Skeletal muscle atrophy,
Specific learning disability,
Submucous cleft hard palate,
Unsteady gait,
Ventriculomegaly,
Waddling gait
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