Seckel syndrome is a rare autosomal recessive disorder characterized by intrauterine growth retardation, dwarfism, microcephaly with mental retardation, ... |
Seckel syndrome is a rare autosomal recessive disorder characterized by growth retardation, microcephaly with mental retardation, and a characteristic facial ... |
Seckel syndrome is a rare autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, severe microcephaly with mental ... |
A number sign (#) is used with this entry because of evidence that Seckel syndrome-10 (SCKL10) is caused by compound heterozygous mutation in the NSMCE2 ... |
A number sign (#) is used with this entry because of evidence that Seckel syndrome-9 (SCKL9) is caused by homozygous mutation in the TRAIP gene (605958) on ... |
Seckel syndrome-6 (SCKL6) is caused by homozygous mutation in the CEP63 gene (614724) on chromosome 3q22. One such family has been reported. |
Novel microcephalic primordial dwarfism disorder associated with variants in the centrosomal protein ninein. |
Seckel syndrome-8 (SCKL8) is characterized by severe microcephaly and markedly reduced height. Some patients have bird-like facies and exhibit developmental ... |
Seckel syndrome is an autosomal recessive disorder characterized by proportionate short stature, severe microcephaly, mental retardation, and a typical ... |
21 мар. 2024 г. · Seckel syndrome-11 (SCKL11) is characterized by severe primary microcephaly, short stature, developmental delay, impaired intellectual ... |
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