Seckel syndrome

Seckel syndrome is a type of microcephalic primordial dwarfism that is characterized by a proportionate dwarfism of prenatal onset, a severe microcephaly, a typical dysmorphic face (bird-like), and mild to severe intellectual disability.

Intellectual disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

合計: 1

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PMID (PMCID)
24483323	MIXED_SAMPLE	Child
	Successful outcome of allogeneic stem cell transplantation in Seckel syndrome.
	Darrigo LG Jr, Rodrigues MC, Pieroni F, Stracieri AB, Moraes DA, Grecco CE, Dias JB, Sobral AC, Simoes BP. Pediatr Transplant. 2014;18(3):E93-5.
	Seckel syndrome is a rare autosomal recessive disease, genetically heterogeneous, characterized by short stature, prenatal microcephaly, intellectual disability, dysmorphic features, chromosomal instability, and hematological disorders.