Human (45 sources):
Abnormal intervertebral disk morphology,
Abnormality of immune system physiology,
Abnormality of neuronal migration,
Abnormality of the dentition,
Adducted thumb,
Aqueductal stenosis,
Arachnodactyly,
Camptodactyly of finger,
Cerebellar atrophy,
Cerebral atrophy,
Cognitive impairment,
Delayed speech and language development,
Dysmetria,
EEG abnormality,
Esotropia,
Feeding difficulties,
Generalized hypotonia,
Global developmental delay,
Glomerular sclerosis,
Hemiplegia/hemiparesis,
Hiatus hernia,
High palate,
Hypertelorism,
Hypoplasia of the ear cartilage,
Hypotelorism,
Hypotonia,
Intellectual disability,
Intrauterine growth retardation,
Macrotia,
Microcephaly,
Micrognathia,
Minimal change glomerulonephritis,
Narrow forehead,
Nephropathy,
Nephrotic syndrome,
Nystagmus,
Pachygyria,
Polymicrogyria,
Premature birth,
Proteinuria,
Scoliosis,
Seizure,
Short stature,
Spasticity,
Stage 5 chronic kidney disease
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