Results 1 -
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33
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microcephaly
- ... the most common cause of autosomal recessive primary microcephaly (often shortened to MCPH, which stands for "microcephaly primary hereditary"). This condition is characterized by an ...
- ... STAMBP gene have been identified in people with microcephaly-capillary malformation syndrome, an inherited disorder characterized by an abnormally small head size (microcephaly), profound developmental delay and intellectual disability, recurrent seizures ( ...
- ... identified in people who have mandibulofacial dysostosis with microcephaly (MFDM). This disorder causes malformations of the head ... syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. Clin Dysmorphol. 2006 Jul;15( ...
- ... the PNKP gene have been found to cause microcephaly, seizures, and developmental delay (MCSZ). This condition is ... that result in an unusually small head size (microcephaly), recurrent seizures (epilepsy), and delayed development of speech ...
- ... brain development. All known individuals with Amish lethal microcephaly have a mutation in which the protein building ... acid in the urine characteristic of Amish lethal microcephaly. More About This Health Condition MedlinePlus Genetics provides ...
- ... has two main forms: a severe form called microcephaly with pontine and cerebellar hypoplasia (MICPCH), and a ... of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet. ...
- ... symptoms, which may include a small head size (microcephaly), severe developmental delays, abnormal movements (dyskinesia), seizures, and ... van Slegtenhorst MA. CSTB null mutation associated with microcephaly, early developmental delay, and severe dyskinesia. Neurology. 2016 ...
- ... is characterized by an unusually small head size (microcephaly), severe developmental delay, and recurrent seizures that are ... These disruptions in normal brain development lead to microcephaly, severe developmental delay, and the other signs and ...
- ... X-linked mental retardation in another family with microcephaly. Am J Hum Genet. 2004 Apr;74(4): ... in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. Eur J Hum Genet. 2007 ...
- ... with an unusually small brain and head size (microcephaly). These changes include a deletion of the AKT3 ... CGH defines critical regions and candidate genes for microcephaly, abnormalities of the corpus callosum, and seizure phenotypes ...
