ARID2 Gene ARID1B Gene DPF2 Gene Cellosaurus Disease Terminology SMARCB1 Gene SMARCC2 Gene SMARCE1 Gene SMARCA4 Gene Syndrome Coffin-Siris Syndrome Coffin-Siris_Syndrome Coffin-Siris Syndrome A rare genetic disorder with an undetermined pattern of inheritance affecting mostly females. Clinical signs at birth include recurrent respiratory infections, poor feeding, hypotonia, joint laxity and characteristic shortened fifth digits with hypoplastic or absent nails and craniofacial appearance: microcephaly, wide nose and lips, sparse scalp hair but thick eyebrows and eyelashes. The clinical course includes developmental delays in motor skills and speech with associated moderate mental retardation. C1864967 Cellosaurus Disease or Syndrome Coffin-Siris Syndrome C35321 ARID1A Gene