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Primary microcephaly
- Autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary") is a condition in which infants are born with ...
- ... are the most common cause of autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly ... Vince GH. Expression analysis of the autosomal recessive primary microcephaly genes MCPH1 (microcephalin) and MCPH5 (ASPM, abnormal spindle- ...
- Brain Malformations (National Library of Medicine)Most brain malformations begin long before a baby is born. Something damages the developing nervous system or causes it to develop abnormally. Sometimes it's ...
- ... Kumar A. Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome ...
- Microcephaly (Mayo Foundation for Medical Education and Research)Brain Malformations/Specifics ... Brain Malformations ... Mayo Foundation for Medical Education and Research
- ... by short stature, an unusually small head size (microcephaly), distinctive facial features, recurrent respiratory tract infections, an ... normal rate but remain shorter than their peers. Microcephaly is apparent from birth in the majority of ...
- ... deletion, but can include an unusually small head (microcephaly), intellectual disability, ... are thought to cause primary ovarian insufficiency without any other features of BPES. ...
- ... have weak muscle tone (hypotonia), a small head (microcephaly), frequent respiratory infections, developmental delay, and learning difficulties. ... The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus ...
- ... speech problems (dysarthria), and a small head size (microcephaly). In addition, affected individuals commonly experience muscle weakness, ... a syndrome implies nuclear oxidative damage as the primary disease mechanism. Mol Endocrinol. 2009 Dec;23(12): ...
- ... tone (hypotonia), and an unusually small head size (microcephaly). Researchers have not determined why MT-ATP6 mutations ... Santra S, Pallotti F, Girvin ME. Pathogenesis of primary defects in mitochondrial ATP synthesis. Semin Cell Dev ...
