Seckel syndrome
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.
MONDO:0002254
syndromic disease
is_a
MONDO:0006025
autosomal recessive disease
is_a
SCKL
exact
Seckel-type Dwarfism
exact
bird-headed dwarfism
exact
nanocephalic Dwarfism
exact
SPBC16D10.04c SPAC16A10.06c SPCC338.08 SPBC216.05 SPAC6G9.06c