C4304500_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A skeletal dysplasia with characteristics of multiple epiphyseal dysplasia, macrocephaly and facial dysmorphism. It has been described in 4 children from one Omani family. Dysmorphic features consist of macrocephaly with frontal bossing, hypertelorism, flat malar region, low-set ears and short neck. The disease gene has been mapped to the telomeric region of the long arm of chromosome 15. The condition is transmitted in an autosomal recessive manner.
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?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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