syndromic disease autosomal recessive disease Seckel syndrome UMLS:C0265202 SCKL Orphanet:808 MONDO:0019342 NCIT:C125488 ICD9:759.89 A rare autosomal recessive inherited syndrome caused by mutations in the ATR gene, RBBP8 gene, CENPJ gene, CEP152 gene, CEP63 gene, NIN gene, DNA2 gene, or TRAIP gene. It is characterized by intrauterine growth retardation, dwarfism, microcephaly, mental retardation, and a "bird-headed" facial appearance. icd11.foundation:952199295 NORD:1701 OMIMPS:210600 SCTID:57917004 DOID:0050569 bird-headed dwarfism MEDGEN:78534 Seckel-type Dwarfism nanocephalic Dwarfism GARD:0008562