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DISEASE","6011000124106~MAPCATEGORYID~447637006","900000000000509007~ACCEPTABILITYID~900000000000548007","900000000000508004~ACCEPTABILITYID~900000000000548007","447562003~MAPPRIORITY~1","6011000124106~MAPTARGET~Q89.7","447562003~MAPCATEGORYID~447637006","900000000000497000~MAPTARGET~XVMfH","6011000124106~MAPADVICE~ALWAYS Q89.7","447562003~MAPADVICE~ALWAYS Q87.8 &#x7C; POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION","6011000124106~MAPPRIORITY~1","6011000124106~CORRELATIONID~447561005","6011000124106~MAPTARGET~Q02","6011000124106~MAPRULE~TRUE","6011000124106~MAPGROUP~3","900000000000509007~ACCEPTABILITYID~900000000000549004"],"http://www.w3.org/2004/02/skos/core#definition":["A rare genetic multiple congenital anomalies/dysmorphic syndrome with characteristics of microcephaly, severe global developmental delay and intellectual disability, hypotonia, respiratory insufficiency, failure to thrive, and congenital anomalies affecting the skeleton, eyes, and several organ systems. Seizures and hearing loss are sometimes observed. Independent ambulation and meaningful speech are not attained. Common dysmorphic facial features include small forehead, biparietal narrowing, flat face, hypertelorism, arched eyebrows, short, upslanting palpebral fissures, wide nasal bridge, small, upturned nose, forward facing ears, and micrognathia. 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