Human (58 sources):
Abnormal facial shape,
Abnormal intervertebral disk morphology,
Abnormality of immune system physiology,
Abnormality of neuronal migration,
Abnormality of the dentition,
Absent speech,
Adducted thumb,
Anteverted nares,
Aqueductal stenosis,
Camptodactyly of finger,
Cerebellar atrophy,
Clinodactyly of the 5th finger,
Cognitive impairment,
Decreased body weight,
Decreased response to growth hormone stimulation test,
Delayed ability to walk,
Delayed skeletal maturation,
Delayed speech and language development,
Depressed nasal bridge,
Downturned corners of mouth,
EEG abnormality,
Epicanthus,
Failure to thrive,
Flexion contracture,
Global developmental delay,
Hemiplegia/hemiparesis,
Hiatus hernia,
High forehead,
High palate,
Hyperreflexia,
Hypertelorism,
Hypoalbuminemia,
Hypoplasia of the ear cartilage,
Hypotelorism,
Hypothyroidism,
Hypotonia,
Intrauterine growth retardation,
Macrotia,
Microcephaly,
Microdontia,
Micrognathia,
Nephropathy,
Nephrotic syndrome,
Optic atrophy,
Pachygyria,
Partial agenesis of the corpus callosum,
Periorbital fullness,
Premature birth,
Profound global developmental delay,
Proptosis,
Proteinuria,
Seizure,
Short philtrum,
Short stature,
Sleep abnormality,
Spasticity,
Tented upper lip vermilion,
Wide mouth
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