germline mutations in the FLCN gene(passive) is caused by syndrome ( BHD
A novel mitochondrial tRNAPhe mutationcausesMERRF syndrome
missense mutationscausingSnyder?Robinson Syndrome
tRNAPhe mutationcausesMERRF syndrome
mutations in the Mitochondrial DNA(passive) is caused byMERRF syndrome
either the deletion of , or a mutation on , the UBE3A gene on chromosome 15(passive) is generally caused byAngelman Syndrome
the deficiency of one of the enzymes required to degrade a complex sugar called heparan sulfate(passive) is caused bySanfilippo Syndrome
a deletion or mutation in the UBE3A gene on chromosome 15(passive) is caused byAngelman syndrome
a disruption in the function of the UBE3A gene on the maternal chromosome 15(passive) is caused byAngelman syndrome
problems with a gene located on chromosome 15 called UBE3A genes(passive) 's often caused byAngelman Syndrome
mutations in transcription factors ott et al(passive) caused bySturgeweber syndrome
the mutation and deletion of maternal UBE3A genecan causeAngelman syndrome
a disruption of the expression or function of the UBE3A gene located on the maternal chromosome 15 ( q11q13(passive) is caused byAngelman syndrome
deletion of or abnormal expression of the UBE3A gene that is located on the long arm ( q ) of chromosome 15 ( 15q11-q13(passive) is caused byAngelman syndrome
Siciliano G. A novel mitochondrial tRNAPhe mutationcausesMERRF syndrome
by mutation in or deletion of the maternal copy of the gene(passive) is caused byAngelman syndrome
the mutationscauseGenitopatellar syndrome
More about Angelman Syndrome Deletion of the maternally inherited copy of the UBE3A genecausesAngelman syndrome
a malfunction of the gene UBE3A in the maternal chromosome # 15(passive) is caused byAngelman syndrome
by a mutation or absence of the maternal copy of the UBE3A gene(passive) caused byAngelman syndrome
at the University of Minnesota(passive) was discoveredSanfilippo syndrome
gene mutationscauseMerrf syndrome
the loss of a gene located on chromosome 15(passive) is caused byAngelman syndrome
Other abnormalities involving the region of chromosome 15 that contains the UBE3A genecan also causeAngelman syndrome
an error in a gene located on chromosome 15 known as the ubiquitin protein ligase(passive) is caused byAngelman syndrome
UBE3A. Mutations in the UBE3A gene are knownto causeAngelman Syndrome
by loss of the maternal copy of the Ube3a gene(passive) is caused byAngelman Syndrome
the loss of the maternal copy of the UBE3A gene(passive) is caused byAngelman syndrome
loss of the maternal copy of the Ube3a gene(passive) is caused byAngelman Syndrome
a malfunction of the gene UBE3A in the maternal chromosome(passive) is caused byAngelman syndrome
by the chromosome 15 or ubiquitin protein ligase gene(passive) to be caused byAngelman syndrome
deletion or abnormal expression of the UBE3A gene(passive) is caused byAngelman syndrome
by deletion or inactivation of genes on the maternally inherited chromosome 15(passive) is ... caused byAngelman syndrome
by mutations in the UBE3A gene(passive) caused byAngelman syndrome
the mutations in the UBE3A genecauseAngelman Syndrome
serious morbidity and even death fromcauseserious morbidity and even death from
vitamin K deficiency and risk of neonatal bleedingMay ... causevitamin K deficiency and risk of neonatal bleeding
alsohave ... causealso
painful knees and foot deformitiescausingpainful knees and foot deformities
development delays , severe speech impairment , intellectual disability , problems with movement and balance , and seizurescausesdevelopment delays , severe speech impairment , intellectual disability , problems with movement and balance , and seizures
tumour lysis syndromecausingtumour lysis syndrome
severe delays or mental retardation and problems with speechcausessevere delays or mental retardation and problems with speech
in severe neurological deterioration in childrenresultsin severe neurological deterioration in children
to mental retardation , speech impairment and brain seizuresleadsto mental retardation , speech impairment and brain seizures
usuallycausesusually
problems(passive) caused byproblems
to developmental delays , speech difficulties , seizures and walking or balance difficultiescan leadto developmental delays , speech difficulties , seizures and walking or balance difficulties
learning difficulties , speech problems , and seizurescauseslearning difficulties , speech problems , and seizures
severe development delayscausessevere development delays
from a loss of gene activity ( expression ) in a specific part of chromosome 15 in each cellresultsfrom a loss of gene activity ( expression ) in a specific part of chromosome 15 in each cell
problems with depth perceptionCan ... causeproblems with depth perception
a variety of physical and developmental delays in childrencausesa variety of physical and developmental delays in children
reading problem(passive) caused byreading problem
the life challenges(passive) caused bythe life challenges
from a loss of gene activity in a specific part of chromosome 15 , the 15q11-q13 regionresultsfrom a loss of gene activity in a specific part of chromosome 15 , the 15q11-q13 region
developmental disability and seizurescausesdevelopmental disability and seizures
from a loss of gene activity ( expressionresultsfrom a loss of gene activity ( expression
seizures , delayed milestones , balance issues , and most have no functional speechcausesseizures , delayed milestones , balance issues , and most have no functional speech
severe deficitscausessevere deficits
movement and balance disordersalso causesmovement and balance disorders
movement and balance disordersalso causesmovement and balance disorders
the strongestprovokedthe strongest
in severe learning difficultiesresultsin severe learning difficulties
difficulties with depth perceptionmay causedifficulties with depth perception
severe intellectual and physical disabilitycausessevere intellectual and physical disability
seizures(passive) caused byseizures
mental retardation and impaired speechcausesmental retardation and impaired speech
severe seizures and an obsession with watercausessevere seizures and an obsession with water
anxiety and depression(passive) caused byanxiety and depression
developmental delay and lack of speechcausesdevelopmental delay and lack of speech
from a mutation in the PTENresultsfrom a mutation in the PTEN
similar symptomscan causesimilar symptoms
headaches or migrainesCan ... causeheadaches or migraines
headaches and migrainescan causeheadaches and migraines