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Seckel syndrome 1 (SCKL1)

SCKL1 is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, and a characteristic 'bird-headed' facial appearance.

OTHER NAME(S): BIRD-HEADED DWARFISM
SECKEL-TYPE DWARFISM
NANOCEPHALIC DWARFISM
MICROCEPHALIC PRIMORDIAL DWARFISM I

ABREVIATION(S):
SCKL1
SCKL

TYPE: microcephaly, mental retardation (MR), facial anomalies, growth retardation

Related patway(s): Fanconi anemia (FA) pathway, DNA damage response (DDR)

DNAtraffic protein(s) related to disease: ATR

OMIM: 210600

Last modification date: Aug. 17, 2011