has material basis in germline mutation in CKAP2L syndromic intellectual disability Filippi syndrome https://github.com/monarch-initiative/mondo/issues/4948 https://github.com/monarch-initiative/mondo/issues/5588 https://www.malacards.org/card/filippi_syndrome FLPIS Scott craniodigital syndrome with intellectual disability syndactyly, type I, with microcephaly and mental retardation Filippi syndrome is characterized by microcephaly, cutaneous syndactyly of the fingers and toes, intellectual deficit, growth retardation and a characteristic facies (high and broad nasal bridge, thin alae nasi, micrognathia and a high frontal hairline). So far, less than 25 cases have been reported. Cryptorchidism, polydactyly, and teeth and hair anomalies may also be present. Transmission is autosomal recessive. MEDGEN:163197 Filippi syndrome Orphanet:3255 Scott craniodigital syndrome with mental retardation unusual facial appearance, microcephaly, growth and mental retardation and syndactyly OMIM:272440 syndactyly, type I, with microcephaly and intellectual disability syndactyly type I with microcephaly and mental retardation DOID:0112194 MONDO:0010092 SCTID:720954000 NORD:1149 UMLS:C0795940 type 1 syndactyly-microcephaly-intellectual disability syndrome GARD:0000062 unusual facial appearance, microcephaly, growth and intellectual disability and syndactyly syndactyly type I with microcephaly and intellectual disability icd11.foundation:1989471300 FILIPPI syndrome MESH:C538152 multiple congenital anomalies/dysmorphic syndrome-intellectual disability polydactyly-syndactyly-triphalangism