Monarch Ortholog Phenotypes
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Human (45 sources):
Abnormal periventricular white matter morphology,
Anteverted nares,
Brain atrophy,
Broad finger,
Broad toe,
Bulbous nose,
Cerebellar hypoplasia,
Cerebellar vermis hypoplasia,
Cerebral atrophy,
Cerebral visual impairment,
Coarse facial features,
Decreased fetal movement,
Deeply set eye,
Delayed speech and language development,
Developmental regression,
Dysplastic corpus callosum,
Encephalopathy,
Epicanthus,
Exaggerated cupid's bow,
Extra-axial cerebrospinal fluid accumulation,
Fetal pyelectasis,
Gastrostomy tube feeding in infancy,
Gingival overgrowth,
Global developmental delay,
Highly arched eyebrow,
Hypoplasia of the corpus callosum,
Hyporeflexia,
Macrocephaly,
Macroglossia,
Narrow forehead,
Oligohydramnios,
Periventricular leukomalacia,
Poor speech,
Profound global developmental delay,
Prominent nasal bridge,
Reduced brain N-acetyl aspartate level by MRS,
Respiratory insufficiency,
Scoliosis,
Seizure,
Severe muscular hypotonia,
Sloping forehead,
Small basal ganglia,
Tented upper lip vermilion,
Thick vermilion border,
Ventriculomegaly
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Mouse (2 sources):
abnormal embryo size,
preweaning lethality, incomplete penetrance
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View all ortholog results at Monarch
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