Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4208
Gene Symbol: MEF2C
MEF2C 		0.110 Biomarker disease BEFREE MEF2C-related epilepsy has been poorly described in the literature, despite a consistent MEF2C haploinsufficiency phenotype characterized by severe language impairment and motor delay (MIM# 613443). 30922778 2019
Entrez Id: 203068
Gene Symbol: TUBB
TUBB 		0.110 GeneticVariation disease BEFREE We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. 28130172 2017
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3 		0.110 GeneticVariation disease BEFREE ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia. 22924536 2012
Entrez Id: 6335
Gene Symbol: SCN9A
SCN9A 		0.110 Biomarker disease BEFREE This is a case of global motor delay and erythromelalgia associated with SCN9A. 23893323 2014
Entrez Id: 10382
Gene Symbol: TUBB4A
TUBB4A 		0.110 GeneticVariation disease BEFREE We have previously reported that mutations in TUBB5 cause microcephaly that is accompanied by severe intellectual impairment and motor delay. 28130172 2017
Entrez Id: 1434
Gene Symbol: CSE1L
CSE1L 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS, childhood apraxia of speech; CD, childhood dysarthria; CND, complex neurodevelopmental disorders; DI, dysarthria index; DSI, dysarthria subtype indices; MSD, motor speech disorder; No MSD, no motor speech disorder; NSA, normal(ized) speech acquisition; PEPPER, programs to examine phonetic and phonologic evaluation records; PM, pause marker; PMI, pause marker index; PSD, persistent speech delay; PSE, persistent speech errors; SD, speech delay; SDCS, speech disorders classification system; SDCSS, speech disorders classification system summary; SE, speech errors; SMD, speech motor delay. 30987467 2019
Entrez Id: 1500
Gene Symbol: CTNND1
CTNND1 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS, childhood apraxia of speech; CD, childhood dysarthria; CND, complex neurodevelopmental disorders; DI, dysarthria index; DSI, dysarthria subtype indices; MSD, motor speech disorder; No MSD, no motor speech disorder; NSA, normal(ized) speech acquisition; PEPPER, programs to examine phonetic and phonologic evaluation records; PM, pause marker; PMI, pause marker index; PSD, persistent speech delay; PSE, persistent speech errors; SD, speech delay; SDCS, speech disorders classification system; SDCSS, speech disorders classification system summary; SE, speech errors; SMD, speech motor delay. 30987467 2019
Entrez Id: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS, childhood apraxia of speech; CD, childhood dysarthria; CND, complex neurodevelopmental disorders; DI, dysarthria index; DSI, dysarthria subtype indices; MSD, motor speech disorder; No MSD, no motor speech disorder; NSA, normal(ized) speech acquisition; PEPPER, programs to examine phonetic and phonologic evaluation records; PM, pause marker; PMI, pause marker index; PSD, persistent speech delay; PSE, persistent speech errors; SD, speech delay; SDCS, speech disorders classification system; SDCSS, speech disorders classification system summary; SE, speech errors; SMD, speech motor delay. 30987467 2019
Entrez Id: 9564
Gene Symbol: BCAR1
BCAR1 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS, childhood apraxia of speech; CD, childhood dysarthria; CND, complex neurodevelopmental disorders; DI, dysarthria index; DSI, dysarthria subtype indices; MSD, motor speech disorder; No MSD, no motor speech disorder; NSA, normal(ized) speech acquisition; PEPPER, programs to examine phonetic and phonologic evaluation records; PM, pause marker; PMI, pause marker index; PSD, persistent speech delay; PSE, persistent speech errors; SD, speech delay; SDCS, speech disorders classification system; SDCSS, speech disorders classification system summary; SE, speech errors; SMD, speech motor delay. 30987467 2019
Entrez Id: 9564
Gene Symbol: BCAR1
BCAR1 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
Entrez Id: 1434
Gene Symbol: CSE1L
CSE1L 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
Entrez Id: 1500
Gene Symbol: CTNND1
CTNND1 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
Entrez Id: 100528016
Gene Symbol: TMX2-CTNND1
TMX2-CTNND1 		0.020 Biomarker disease BEFREE <b>Abbreviations:</b> CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; NSA: Normal(ized) Speech Acquisition; PSD: Persistent Speech Delay; PSE: Persistent Speech Errors; SD: Speech Delay; SDCS: Speech Disorders Classification System; SE: Speech Errors; SMD: Speech Motor Delay. 31221009 2019
Entrez Id: 1714
Gene Symbol: DGCR
DGCR 		0.010 GeneticVariation disease BEFREE We present an atypical and inherited 0.8-Mb duplication at 22q11.2, in the distal segment of the DGS/VCFS syndrome typically deleted region (TDR), in a 3-year-old boy with motor delay, language disorders and mild facial phenotype. 22796526 2012
Entrez Id: 4434
Gene Symbol: MSD
MSD 		0.010 Biomarker disease BEFREE <b>Abbreviations:</b> CAS, childhood apraxia of speech; CD, childhood dysarthria; CND, complex neurodevelopmental disorders; DI, dysarthria index; DSI, dysarthria subtype indices; MSD, motor speech disorder; No MSD, no motor speech disorder; NSA, normal(ized) speech acquisition; PEPPER, programs to examine phonetic and phonologic evaluation records; PM, pause marker; PMI, pause marker index; PSD, persistent speech delay; PSE, persistent speech errors; SD, speech delay; SDCS, speech disorders classification system; SDCSS, speech disorders classification system summary; SE, speech errors; SMD, speech motor delay. 30987467 2019
Entrez Id: 27086
Gene Symbol: FOXP1
FOXP1 		0.010 GeneticVariation disease BEFREE De novo FOXP1 mutations have been associated with intellectual disability (ID), motor delay, autistic features and a wide spectrum of speech difficulties. 29330474 2018
Entrez Id: 847
Gene Symbol: CAT
CAT 		0.010 AlteredExpression disease BEFREE A patient with a relatively mild phenotype of infantile cholestasis, hypotonia and motor delay had elevated plasma very long-chain fatty acids and bile acid precursors, but fibroblast studies revealed normal or only mildly abnormal peroxisomal parameters and mosaic catalase immunofluorescence. 17534573 2007
Entrez Id: 8231
Gene Symbol: CND
CND 		0.010 AlteredExpression disease BEFREE <b>Abbreviations:</b> CAS, childhood apraxia of speech; CD, childhood dysarthria; CND, complex neurodevelopmental disorders; DI, dysarthria index; DSI, dysarthria subtype indices; MSD, motor speech disorder; No MSD, no motor speech disorder; NSA, normal(ized) speech acquisition; PEPPER, programs to examine phonetic and phonologic evaluation records; PM, pause marker; PMI, pause marker index; PSD, persistent speech delay; PSE, persistent speech errors; SD, speech delay; SDCS, speech disorders classification system; SDCSS, speech disorders classification system summary; SE, speech errors; SMD, speech motor delay. 30987467 2019
Entrez Id: 6899
Gene Symbol: TBX1
TBX1 		0.010 GeneticVariation disease BEFREE We present an atypical and inherited 0.8-Mb duplication at 22q11.2, in the distal segment of the DGS/VCFS syndrome typically deleted region (TDR), in a 3-year-old boy with motor delay, language disorders and mild facial phenotype. 22796526 2012
Entrez Id: 139189
Gene Symbol: DGKK
DGKK 		0.010 Biomarker disease BEFREE Our data, with previously published reports, suggest that duplications involving SHROOM4 and DGKK may represent a new syndromic X-linked ID critical region associated with mild to severe ID, speech delay +/- dysarthria, attention deficit disorder, precocious puberty, constipation, and motor delay. 26692240 2016
Entrez Id: 3576
Gene Symbol: CXCL8
CXCL8 		0.010 AlteredExpression disease BEFREE Two studies reported correlation between CXCL8/IL-8 plasma levels with cognitive and motor delay. 29051031 2018
Entrez Id: 2643
Gene Symbol: GCH1
GCH1 		0.010 GeneticVariation disease BEFREE We conducted genomic DNA sequencing of the GCH gene in two patients (Cases 1 and 2) manifesting generalized dystonia responsive to levodopa and severe developmental motor delay. 9667588 1998
Entrez Id: 10743
Gene Symbol: RAI1
RAI1 		0.010 GeneticVariation disease BEFREE Phenotypic comparison between patients with deletions and patients with RAI1 mutations show that 21 of 30 SMS features are the result of haploinsufficiency of RAI1, whereas cardiac anomalies, speech and motor delay, hypotonia, short stature, and hearing loss are associated with 17p11.2 deletions rather than RAI1 mutations (P<.05). 16845274 2006
Entrez Id: 9289
Gene Symbol: ADGRG1
ADGRG1 		0.010 Biomarker disease BEFREE The absence of a severe muscle phenotype in GPR56 knockout mice and human patients suggests that other factors may compensate for the lack of this G-protein coupled receptor during muscle development and that the motor delay observed in these patients is likely not a result of primary muscle abnormalities. 24102982 2013
Entrez Id: 5662
Gene Symbol: PSD
PSD 		0.010 Biomarker disease BEFREE <b>Abbreviations</b>: CAS: Childhood Apraxia of Speech; CD: Childhood Dysarthria; DS: Down syndrome; II: Intelligibility Index; No MSD: No Motor Speech Disorder; OII: Ordinal Intelligibility Index; PSD: Persistent Speech Delay; SDCS: Speech Disorders Classification System; SMD: Speech Motor Delay. 31221010 2019