Seckel syndrome 1
A rare hereditary autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with INTELLECTUAL DISABILITY, and a characteristic 'bird-headed' facial appearance. Mutations in the ATR gene have been identified. OMIM: 210600
Also Known As:
Bird-headed dwarfism; Microcephalic Primordial Dwarfism I; Microcephalic primordial dwarfism 1; Nanocephalic dwarfism; Seckel-type dwarfism
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Disease Context: Research Results