C1836123_SNOMEDCT_US | Knowledge4COVID-19

Property	Value
?:definition	A multiple malformation syndrome with characteristics of Hirschprung megacolon and microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability. It has been described in about 10 patients, boys and girls. Some of the reported cases also had iris coloboma, hypotonia, and ptosis. Inherited as an autosomal recessive trait and was found to be caused by mutations in KIAA1279 on chromosome 10q21.3-q22.1.
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?:type	<https://research.tib.eu/covid-19/vocab/AnnotationDefinition>

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