| Metadata | |
|---|---|
| ID | DOID:0112194 |
| Name | Filippi syndrome |
| Definition | A syndrome characterized by short stature, microcephaly, syndactyly, intellectual disability, pre- and postnatal growth failure, and facial dysmorphism that has_material_basis_in homozygous or compound heterozygous mutation in the CKAP2L gene on chromosome 2q14.1. https://pubmed.ncbi.nlm.nih.gov/18553552/, https://pubmed.ncbi.nlm.nih.gov/25439729/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Scott craniodigital syndrome with mental retardation [EXACT] type 1 syndactyly-microcephaly-intellectual disability syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |