Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 GeneticVariation disease BEFREE Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. 27761913 2017
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 Biomarker disease BEFREE One patient's symptoms suggest an extension of the known spectrum of MECP2 associated phenotypes to include global developmental delay with obsessive compulsive disorder and attention deficit hyperactivity disorder. 23921973 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 Biomarker disease BEFREE De novo MECP2 duplication derived from paternal germ line result in dysmorphism and developmental delay. 24129071 2014
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 GeneticVariation disease BEFREE Furthermore, a complex duplication spanning of the MECP2 gene was identified in two brothers who presented with developmental delay and intellectual disability. 23055267 2013
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 GeneticVariation disease BEFREE Methyl-CpG binding protein 2 gene (MECP2) testing is indicated for patients with numerous clinical presentations, including Rett syndrome (classic and atypical), unexplained neonatal encephalopathy, Angelman syndrome, nonspecific mental retardation, autism (females), and an X-linked family history of developmental delay. 22123427 2012
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 Biomarker disease BEFREE We sequenced MECP2 in 51 females with various clinical presentations, including developmental delay, autism, atypical and classical RTT, referred to our laboratories for testing. 19365833 2009
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 GeneticVariation disease BEFREE Rett syndrome (RS) is an X-linked dominant neurodevelopmental disorder caused by mutations in MECP2 (Xq28) and characterized by normal development until 6-12 months of age, followed by regression with loss of acquired skills, gradual onset of microcephaly, stereotypic hand movements and psychomotor delay. 17276711 2007
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 Biomarker disease BEFREE Although the etiology of the infections is not understood, we recommend considering MECP2 dosage studies and a genetics referral in individuals with severe developmental delay and neurologic findings, especially when a history of recurrent respiratory ailments has been documented. 17088400 2006
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 GeneticVariation disease BEFREE This report supports broadening the phenotype of patients who should be considered for MECP2 mutation analysis to include cases of developmental delay and hypotonia without evidence of an initial period of normal development. 12210319 2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 GeneticVariation disease BEFREE Most male patients with MeCP2 mutations exhibit moderate to severe developmental delay/mental retardation. 12555243 2003
Entrez Id: 4204
Gene Symbol: MECP2
MECP2
0.200 Biomarker disease HPO
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.170 AlteredExpression disease BEFREE The mechanism of pathogenesis contributing significantly to our patient's clinical findings may relate to interaction between TOP3B and fragile X mental retardation protein (FMRP), an mRNA-binding protein that regulates translation and is altered in fragile X syndrome, a condition involving developmental delay, learning disability, and autism. 27880953 2017
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.170 GeneticVariation disease BEFREE Missense mutations in the FMR1 gene might account for a considerable proportion of cases in male patients with FXS-related symptoms, such as those linked to mental retardation and developmental delay. 25171808 2015
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.170 Biomarker disease BEFREE The propositus was the product of a 29-week gestation twin pregnancy and was referred for FMR1 testing due to developmental delay. 23949867 2014
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.170 Biomarker disease BEFREE A literature review revealed rare cases with similar deletions that included IDS and FMR1 in females with developmental delay, variable features of Hunter syndrome, and skewed X-inactivation of the normal X chromosome. 23634718 2014
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.170 GeneticVariation disease BEFREE Mutations in CDKL5 and ARX are known causes of early-onset epilepsy and severe developmental delay in males and females. 23583054 2013
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.170 GeneticVariation disease BEFREE Most individuals with CDKL5 mutations had severe developmental delay from birth, seizure onset before the age of 3 months and similar non-dysmorphic features. 22872100 2013
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.170 GeneticVariation disease BEFREE In addition, we find that there is a 9‑fold greater likelihood of detecting clinically significant chromosomal aberrations than of detecting a full Fragile X mental retardation 1 (FMR1) gene CGG repeat expansion in cases referred on the basis of DD. 23525284 2013
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.170 GeneticVariation disease BEFREE Mutations in the CDKL5 (cyclin-dependent kinase-like 5) gene are associated with a severe epileptic encephalopathy (early infantile epileptic encephalopathy type 2, EIEE2) characterized by early-onset intractable seizures, infantile spasms, severe developmental delay, intellectual disability, and Rett syndrome (RTT)-like features. 22921766 2013
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.170 Biomarker disease BEFREE In the last few years, the X-linked serine/threonine kinase cyclin-dependent kinase-like 5 (CDKL5) has been associated with early-onset epileptic encephalopathies characterized by the manifestation of intractable epilepsy within the first weeks of life, severe developmental delay, profound hypotonia, and often the presence of some Rett-syndrome-like features. 22779007 2013
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.170 GeneticVariation disease BEFREE De novo microduplication of the FMR1 gene in a patient with developmental delay, epilepsy and hyperactivity. 22549406 2013
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.170 GeneticVariation disease BEFREE Genetic mutations of the cyclin-dependent kinase-like 5 gene (CDKL5) have been reported in patients with epileptic encephalopathy, which is characterized by intractable seizures and severe-to-profound developmental delay. 21770923 2011
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.170 GeneticVariation disease BEFREE We have identified mosaic exonic deletions of CDKL5 in one male and two females with developmental delay and medically intractable seizures. 21293276 2011
Entrez Id: 2332
Gene Symbol: FMR1
FMR1
0.170 GeneticVariation disease BEFREE These findings greatly expand the catalog of known FMR1 sequence variants and suggest that FMR1 sequence variants may represent an important cause of developmental delay. 20799337 2010
Entrez Id: 6792
Gene Symbol: CDKL5
CDKL5
0.170 GeneticVariation disease BEFREE Interestingly these missense mutations that result in a mislocalisation of the CDKL5 protein are associated with severe developmental delay which was apparent within the first months of life characterised by early and generalised hypotonia, and autistic features, and as well as early infantile spasms. 17993579 2008