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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 ... to cause primary ovarian insufficiency without any other features of BPES. ...
- Find an Expert Immunologist (Jeffrey Modell Foundation)... and growth. Nijmegen Breakage Syndrome is characterized by microcephaly, short stature, developmental disabilities, as well as an ... from one of the questions below: What is Primary Immunodeficiency? Primary Immunodeficiencies (PI) are a group of ...
- Zika Virus Disease (World Health Organization)Zika virus is primarily transmitted by the bite of an infected mosquito from the Aedes genus, mainly Aedes aegypti, in tropical and subtropical regions. ...
- ... 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 ...
