The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis
نویسندگان
چکیده
منابع مشابه
Postnatal short stature, microcephaly, severe syndactyly of hands and feet, dysmorphic face, and mental retardation: a new syndrome?
We report on a 2 year old boy with an apparently previously undescribed multiple congenital anomaly/mental retardation syndrome characterised by postnatal short stature, postnatal microcephaly, dysmorphic face, syndactyly 2/5 of the hands and 1/4 of the feet, and brachymesophalangy of fingers 2 and 5.
متن کاملSLC9A6 mutations cause X-linked mental retardation, microcephaly, epilepsy, and ataxia, a phenotype mimicking Angelman syndrome.
Linkage analysis and DNA sequencing in a family exhibiting an X-linked mental retardation (XLMR) syndrome, characterized by microcephaly, epilepsy, ataxia, and absent speech and resembling Angelman syndrome, identified a deletion in the SLC9A6 gene encoding the Na(+)/H(+) exchanger NHE6. Subsequently, other mutations were found in a male with mental retardation (MR) who had been investigated fo...
متن کاملSyndrome of pigmentary retinal degeneration, cataract, microcephaly, and severe mental retardation.
mental retardation have been studied. We know of no reports of a similar syndrome of abnormalities and consider these patients to have a previously undescribed and presumably hereditary disorder.
متن کاملDistal aphalangia, microcephaly and mental retardation.
A 3-year old boy from Hatton presented with generalised convulsions. He was the third child born to consanguineous parents. The antenatal and perinatal period of this child had been normal. At 3 months of age he developed generalised convulsions and was treated with phenobarbitone at the Nawalapitiya Base Hospital. However, subtle seizures persisted at a frequency of about 1 or 2 seizures a mon...
متن کاملX-Linked Lissencephaly with Absent Corpus Callosum and Ambiguous Genitalia: A Case Report
Background: X-linked lissencephaly with ambiguous genitalia (XLAG) is a recently described genetic disorder, in which patients present with lissencephaly, agenesis of the corpus callosum, refractory epilepsy of neonatal onset, acquired microcephaly, and male genotype with ambiguous genitalia. XLAG is responsible for a severe neurological disorder of neonatal onset in boys. A gyration defect con...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 2011
ISSN: 0022-2593,1468-6244
DOI: 10.1136/jmg.2010.087528