C4518561_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	Syndrome with characteristics of dysmorphism (including facial asymmetry, arched eyebrows, hypertelorism, broad and flat nasal bridge, microtia, small nose with anteverted nostrils, micrognathia), deafness, cleft palate, male pseudohermaphroditism and growth and psychomotor retardation. It has been described in two siblings. The disease is transmitted as an autosomal recessive trait.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C4518561>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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