Human (54 sources):
Abnormal facial shape,
Abnormal heart morphology,
Abnormality of immune system physiology,
Abnormality of the skeletal system,
Abnormal pinna morphology,
Adducted thumb,
Cerebellar atrophy,
Cerebral atrophy,
Congestive heart failure,
Decreased liver function,
Delayed myelination,
Elevated circulating creatine kinase concentration,
Elevated circulating hepatic transaminase concentration,
Failure to thrive,
Feeding difficulties,
Flat forehead,
Gastroesophageal reflux,
Generalized hypotonia,
Growth delay,
Hearing impairment,
Hepatomegaly,
Hydronephrosis,
Hypertrichosis,
Hypertrophic cardiomyopathy,
Hypoglycemia,
Hypoplasia of the corpus callosum,
Hyporeflexia,
Hypotonia,
Intrauterine growth retardation,
Inverted nipples,
Jaundice,
Low anterior hairline,
Low-set ears,
Micrognathia,
Narrow forehead,
Narrow mouth,
Neurogenic bladder,
Overlapping fingers,
Profound global developmental delay,
Progressive microcephaly,
Protruding tongue,
Respiratory insufficiency,
Retrognathia,
Seizure,
Short neck,
Short nose,
Short palpebral fissure,
Short stature,
Skeletal muscle atrophy,
Smooth philtrum,
Splenomegaly,
Thick vermilion border,
Upslanted palpebral fissure,
Wide nose
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