The patient presented with persistent headaches and a 2-year history of progressive hand, arm, and face numbness. [thejns.org]

Moderate to severe mental retardation may also be present at birth (congenital) but may not become apparent until an affected child is older. [rarediseases.org]

Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. [hal.inria.fr]

Conclusions The proband presented here was initially diagnosed with Seckel syndrome because of primary microcephaly, severe mental delay, and characteristic facial features. [link.springer.com]

• Short Arm

  arms and legs, i.e., short-limbed dwarfism). [rarediseases.org]

• Headache

  The patient presented with persistent headaches and a 2-year history of progressive hand, arm, and face numbness. [thejns.org]

The patient died 1 year later of complications related to treatment of a rapidly progressing intracranial aneurysm. This report documents the first case associating moyamoya and Seckel syndromes. [thejns.org]

After etoposide treatment, both the total number of cells and the number of viable cells dropped in all cases. [journals.plos.org]

Alcohol abuse in pregnant women: effects on the fetus and newborn, mode of action and maternal treatment. Int J Environ Res Public Health. 2010;7(2):364–79. Article PubMed PubMed Central Google Scholar 4. Lenke RR, Levy HL. [link.springer.com]

Zinchenko Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moskvorechie St., 1, Moscow, Russian Federation, 115478 Andrey V. Marakhonov Authors Andrey V. [link.springer.com]

Although the lack of biological samples from the Jawad family prevented us from analyzing the predicted appearance of the shorter species of CtIP mRNA and protein in this case, we hypothesize that in each disease, the causative mutation leads to a transcript [journals.plos.org]