has material basis in germline mutation in SNRPB syndromic disease cerebrocostomandibular syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/6751 https://github.com/monarch-initiative/mondo/issues/6877 https://www.malacards.org/card/cerebrocostomandibular_syndrome MESH:C562538 icd11.foundation:1475063064 Orphanet:1393 SCTID:51780007 DOID:0111248 GARD:0006026 MONDO:0007301 CCM syndrome UMLS:C0265342 OMIM:117650 ICD9:759.89 NORD:914 cerebrocostomandibular syndrome cerebro-costo-mandibular syndrome Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis. CCMS MEDGEN:120537 multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome skeletal dysplasia