Neuhauser syndrome

Known as: Cerebral palsy-hypotonic seizures-megalcornea syndrome, Megalocornea-Mental Retardation Syndrome, Seizures-hypotonic cerebral palsy-megalocornea-mental retardation syndrome 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1990-2016
01219902016

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2016
2016
Neuhauser syndrome is an extremely rare genetic disease, most cases are sporadic by spontaneous mutation, but there are cases of… (More)
Is this relevant?
2014
2014
We describe novel CHRDL1 mutations in ten families with X-linked megalocornea (MGC1). Our mutation-positive cohort enabled us to… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
Is this relevant?
Review
2013
Review
2013
Megalocornea can be observed as an isolated abnormality that is inherited by an X-linked mechanism, or it can be associated with… (More)
Is this relevant?
2010
2010
Hospital de Clínicas de Porto Alegre, Universidade Federal do Rio Grande do Sul, Porto Alegre RS, Brazil: MD, Child Neurologist… (More)
  • figure 1
  • figure 2
Is this relevant?
2008
2008
Gonadotropin-releasing hormone (GnRH) is a decapeptide hypothalamic hormone that was named according to its first discovered… (More)
Is this relevant?
2006
2006
We report a 9-month-old boy with major features of Neuhauser syndrome, including megalocornea, mental motor retardation… (More)
Is this relevant?
2006
2006
Megalocornea-mental retardation syndrome, otherwise known as Neuhauser syndrome, is a rare autosomal recessive disorder. Only 36… (More)
Is this relevant?
2002
2002
We report on a patient affected by Neuhauser megalocornea-mental retardation (MMR) syndrome, presenting with most of the major… (More)
Is this relevant?
1997
1997
SummaryWe report here on a Japanese male infant with megalocornea-mental retardation (MMR) syndrome. He had megalocornea (corneal… (More)
  • figure 1
Is this relevant?
1990
1990
Two patients with macrocephaly, mild mental retardation and megalocornea are reported. Hypotonia, poor coordination and… (More)
Is this relevant?