Monarch Ortholog Phenotypes
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Human (26 sources):
Abnormal cerebral white matter morphology,
Amelogenesis imperfecta,
Diaphyseal dysplasia,
Elevated circulating creatine kinase concentration,
Elevated circulating hepatic transaminase concentration,
Epiphyseal dysplasia,
Failure to thrive,
Generalized hypotonia,
Global developmental delay,
Growth delay,
Hepatomegaly,
Hypotonia,
Kyphoscoliosis,
Low-set ears,
Malar flattening,
Metaphyseal dysplasia,
Midface retrusion,
Muscle weakness,
Osteoporosis,
Posteriorly rotated ears,
Secondary microcephaly,
Seizure,
Short stature,
Thrombocytopenia,
Unexplained fevers,
obsolete Joint laxity
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