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by mutations in any one of at least 12 genes(passive) is caused byZellweger syndrome
by mutations in any one of at least 12 genes(passive) is causedZellweger syndrome
mutations in any one of at least 12 genes(passive) is caused byZellweger syndrome
a mutation in any one of 12 genes(passive) is caused byZellweger Syndrome
actin - extracellular - matrix linker protein UNC-112causesKindler syndrome
mutations in one of the following genes(passive) is caused byZellweger syndrome
Loss of Kindlin-1 , a human homolog of the Caenorhabditis elegans actin - extracellular matrix linker protein Unc-112causesKindler syndrome
Defective peroxisome membrane synthesis due to mutations in human PEX3causesZellweger syndrome
just what one would expect it to be : overwearing contact lenses(passive) is caused byOverwear syndrome
by mutations(passive) is causedZellweger syndrome
the peroxisomal Pex proteinsleadingto Zellweger syndrome
varicella - zoster virus(passive) caused bymyoclonus syndrome
PEX13 deficiency(passive) caused byZellweger syndrome
mutations in the FERMT1 gene(passive) is caused by Kindler syndrome
PEX6 variantscausingZellweger syndrome
A deleterious mutation in the PEX2 genecausesZellweger syndrome
PEX1 variantscausingZellweger syndrome
the genecausesKindler syndrome
Dilantin usacausesthepain syndrome
I thinkdiscoveredIncongruity Syndrome
a defciency in an enzyme called tyrosine hydroxylase(passive) is caused bySegawa syndrome
mutations in the ATP7A gene(passive) is caused byMenkes syndrome
by a defect in the ATP7A gene(passive) is caused byMenkes syndrome
a defect in the ATP7A gene(passive) is caused byMenkes syndrome
by a defect in the ATP7A gene(passive) is causedMenkes syndrome
breathing in coal mining dust(passive) is caused byCaplan syndrome
by breathing in coal mining dust(passive) is caused byCaplan syndrome
by breathing in coal mining dust(passive) is causedCaplan syndrome
germline heterozygous loss - of - function sequence mutations within the mismatch repair genes MLH1 , MSH2 , MSH6 or PMS2(passive) is caused bysyndrome
by the triplication of more than 100 genes on human chromosome 21 , including the gene that encodes APP(passive) 's caused bysyndrome
Deficiencymay causeMenkes Syndrome
a defect in the [ [ ATP7A(passive) is caused byMenkes syndrome
mutations in the in the gap junction protein , beta-6 gene ( GJB6(passive) is caused byClouston syndrome
autosomal dominant mutations in the human fibrillin 1 gene ( FBN1 ) with de novo mutations occurring in about 25 % of cases(passive) is caused bysyndrome
having three copies of chromosome 21 , causing an extra copy of the APP gene(passive) is caused bySyndrome
by a defect in t(passive) caused byMenkes syndrome
infection with a specific virus from a group of viruses called hantavirus(passive) is caused bysyndrome
the presence of an extra copy of chromosome 21 in a baby?s cells(passive) is caused bysyndrome
Life with Down syndrome Down syndrome ... a genetic disorder Free essay on down ... mental retardation and physical it is caused by the presence of an extra copy of chromosome number 21causessyndrome
by mutations in the SCN1A sodium channel gene(passive) caused bysyndrome
loss(passive) caused byloss
intellectual disabilitiescausesintellectual disabilities
from maternal isodisomy of chromosomeresultingfrom maternal isodisomy of chromosome
to early deathleadsto early death
from maternal isodisomy of chromosome 1resultingfrom maternal isodisomy of chromosome 1
to lifelong impairments , including lost speech , seizures , scoliosis , irregular breathing patterns , and more than half of the children and womenleadsto lifelong impairments , including lost speech , seizures , scoliosis , irregular breathing patterns , and more than half of the children and women
an abnormal development of bonescausesan abnormal development of bones
problems in the liver , heart , eyes , spine , and kidneyscausesproblems in the liver , heart , eyes , spine , and kidneys
a copper deficiencycan also causea copper deficiency
serious problems , including heart disease , skeletal abnormalities , vision and hearing loss , difficulty breathing , and early deathcan causeserious problems , including heart disease , skeletal abnormalities , vision and hearing loss , difficulty breathing , and early death
many disabilities , both intellectual and physicalcausesmany disabilities , both intellectual and physical
profound and multiple physical and communication disabilities in mainly females , from the age of onecausesprofound and multiple physical and communication disabilities in mainly females , from the age of one
problems with muscles and coordinationalso causesproblems with muscles and coordination
seizures and intellectual disabilitycan also causeseizures and intellectual disability
rarelycausesrarely
problems in brain function that are responsible for cognitive , sensory , emotional , motor and autonomic functioncausesproblems in brain function that are responsible for cognitive , sensory , emotional , motor and autonomic function
severe development delays due to an extra chromosome 18causessevere development delays due to an extra chromosome 18
severe developmental delays due to an extra chromosomecausessevere developmental delays due to an extra chromosome
an irresistible urge to move the legs with its uncomfortable , tingling , aching or creeping sensationscausesan irresistible urge to move the legs with its uncomfortable , tingling , aching or creeping sensations
epilepsy ... curvature of the spine , breathing and eating problemscausesepilepsy ... curvature of the spine , breathing and eating problems
chronic treatment causes chronic treatment chronic syndrome braincauseschronic treatment causes chronic treatment chronic syndrome brain
a variety of medical and developmental problems , including short height , failure of the ovaries to develop and heart defectscan causea variety of medical and developmental problems , including short height , failure of the ovaries to develop and heart defects
impaired copper absorptioncausesimpaired copper absorption
to acute , severe renal and pulmonary problemsleadsto acute , severe renal and pulmonary problems
mental retardation in the children and they have very characteristic physical features that is only associated with this disordercausesmental retardation in the children and they have very characteristic physical features that is only associated with this disorder
a distinct facial appearance , intellectual disability , developmental delays and other physical challengescausesa distinct facial appearance , intellectual disability , developmental delays and other physical challenges
menstrual abnormalities , including painful cycles , infertility or miscarriagecan causemenstrual abnormalities , including painful cycles , infertility or miscarriage
from a mutation in the MECP2 gene on the X chromosomeresultsfrom a mutation in the MECP2 gene on the X chromosome
in a drop in performance , structural injury , such as in the foot , knee , or lower back and metabolic problems , such as fatigue or infectionresultin a drop in performance , structural injury , such as in the foot , knee , or lower back and metabolic problems , such as fatigue or infection
changes in the brain that lead to lifelong impairments , including inability to speak , seizures , scoliosis and breathing difficultiescauseschanges in the brain that lead to lifelong impairments , including inability to speak , seizures , scoliosis and breathing difficulties
people to have weakness or even paralysis in parts of the bodyoften causespeople to have weakness or even paralysis in parts of the body
delayed physical growth and some form of intellectual disabilitycausesdelayed physical growth and some form of intellectual disability
sudden convulsions or seizures ... leading to a coma and brain deathcan causesudden convulsions or seizures ... leading to a coma and brain death
severe ( but usually temporary ) paralysiscausessevere ( but usually temporary ) paralysis
problems such as loss of learning ability and heart defectscan causeproblems such as loss of learning ability and heart defects
to mental retardation , cardiac difficulties , and other problemsmay leadto mental retardation , cardiac difficulties , and other problems
intellectual and physical disabilitycausesintellectual and physical disability
mental disability , a characteristic facial appearance , and multiple malformationscausesmental disability , a characteristic facial appearance , and multiple malformations
weakness and paralysis in the bodycan causeweakness and paralysis in the body
mental retardation , heart abnormalities and other birth defectscausesmental retardation , heart abnormalities and other birth defects