PMID 25606425 2014 Pitfalls in the prenatal diagnosis of mucolipidosis II alpha/beta: A case report.
PMID 20880125 2011 Origin and spread of a common deletion causing mucolipidosis type II: insights from patterns of haplotypic diversity.
rs587777893 in
MTOR gene and
Large head (disorder)
PMID 27159400 2016 Association of MTOR Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism.
rs1057516048 in
NSD1 gene and
Large head (disorder)
PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
rs1057515572 in
PMS2 gene and
Large head (disorder)
PMID 17557300 2007 Novel biallelic mutations in MSH6 and PMS2 genes: gene conversion as a likely cause of PMS2 gene inactivation.
rs1064793345 in
PTEN gene and
Large head (disorder)
PMID 22595938 2012 Estimate of de novo mutation frequency in probands with PTEN hamartoma tumor syndrome.
PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.
PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.
PMID 15948193 2005 Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.
rs1064794254 in
UPF3B gene and
Large head (disorder)
PMID 19238151 2010 Mutations of the UPF3B gene, which encodes a protein widely expressed in neurons, are associated with nonspecific mental retardation with or without autism.
PMID 17704778 2007 Mutations in UPF3B, a member of the nonsense-mediated mRNA decay complex, cause syndromic and nonsyndromic mental retardation.
PMID 22609145 2012 Broadening the phenotype associated with mutations in UPF3B: two further cases with renal dysplasia and variable developmental delay.