C4303550_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	Syndrome with the association of blepharophimosis and ptosis, V-esotropia and weakness of extraocular and frontal muscles, syndactyly of the toes, short stature, prognathism, hypertrophy and fusion of the eyebrows. It has been described in six members of three related families. Transmission is autosomal recessive.
?:hasCUIAnnotation	<https://research.tib.eu/covid-19/entity/C4303550>
?:hasGeneratedBy	<https://research.tib.eu/covid-19/SourceName/SNOMEDCT_US>
?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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