Seckel syndrome

MONDO:0019342

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.

Also known as: SCKL, Seckel-type Dwarfism, bird-headed dwarfism, nanocephalic Dwarfism

1 clinical trial for this condition and its sub-types.

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