has material basis in germline mutation in FLNA otopalatodigital syndrome type 2 https://github.com/monarch-initiative/mondo/issues/4521 https://github.com/monarch-initiative/mondo/issues/4948 https://www.malacards.org/card/otopalatodigital_syndrome_type_ii Otopalatodigital Syndrome Type I and II OPD II syndrome OPD 2 syndrome oto-palato-digital syndrome type 2 otopalatodigital syndrome, type 2 cranioorodigital syndrome OPD syndrome 2 GARD:0005802 SCTID:42432003 ICD9:759.89 Andre syndrome otopalatodigital syndrome, type II otopalatodigital syndrome, type II, X-linked dominant UMLS:C1844696 NORD:1539 MESH:C538089 DOID:0111784 FPO MONDO:0010571 MEDGEN:337064 faciopalatoosseous syndrome OMIM:304120 icd11.foundation:1897308206 cranio-oro-digital syndrome A severe form of otopalatodigital syndrome spectrum disorder, and is characterized by dysmorphic facies, severe skeletal dysplasia affecting the axial and appendicular skeleton, extraskeletal anomalies (including malformations of the brain, heart, genitourinary system, and intestine) and poor survival. OPD2 Orphanet:90652 otopalatodigital syndrome