Loading ...
a viral infectioncan causesTzeites syndrome
A novel mitochondrial tRNAPhe mutationcausesMERRF syndrome
by a novel mutation in the EIF2AK3 gene(passive) caused by Wolcott - Rallison syndrome
a novel mutation in the EIF2AK3 gene(passive) caused byWolcott - Rallison syndrome
by a novel mutation in the EIF2AK3 gene(passive) caused byWolcott - Rallison syndrome
tRNAPhe mutationcausesMERRF syndrome
mutations in the Mitochondrial DNA(passive) is caused byMERRF syndrome
mutations in the HPRT1 gene(passive) is caused byLesch Nyhan syndrome
changes ( mutations ) in the HPRT1 gene(passive) is caused byLesch Nyhan syndrome
by a novel mutation(passive) caused byWolcott - Rallison syndrome
More than 200 mutations in the HPRT1 gene have been foundto causeLesch - Nyhan syndrome
a mutation or change in a gene(passive) is caused byLesch - Nyhan syndrome
Siciliano G. A novel mitochondrial tRNAPhe mutationcausesMERRF syndrome
gene mutationscauseMerrf syndrome
a liver enzyme deficiency(passive) is caused byCrigler - Najjar syndrome
folic acid deficiencymay contributeto Kearns - Sayre syndrome
a defect in the conjugation of bilirubin in the liver(passive) is caused byCrigler - Najjar syndrome
by an abnormal gene which fails to(passive) is causedcrigler - najjar syndrome
by an abnormal gene which fails to (passive) is causedcrigler - najjar syndrome
by an abnormal gene which fails to(passive) is caused bycrigler - najjar syndrome
by an abnormal gene which fails to (passive) is caused bycrigler - najjar syndrome
Haploinsufficiency of NSD1causesSotos syndrome
deficiency of(passive) is caused byLesch Nyhan syndrome
its deficiencycausesLesch - Nyhan Syndrome
Genetic deficiency of HPRTcausesLesch - Nyhan syndrome
the reasons ... folic acid deficiencymay contributeto Kearns - Sayre syndrome
by mutations in EIF2AK3(passive) is caused byWolcott - Rallison syndrome
an abnormal gene which fails to produce a(passive) is caused byCrigler - Najjar syndrome
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X - inactivationcausingLesch - Nyhan syndrome
by defective R1 /(passive) caused byKearns - Sayre syndrome
the genescausingLesch - Nyhan Syndrome
type 1(passive) is causedCrigler Najjar syndrome
mutations in the gene HPRT1(passive) is caused byLesch - Nyhan syndrome
the severe blood loss(passive) is caused bySheehan?s Syndrome
defects in mitochondria , which are structures within cells that us oxygen to convert the energy from food into a form that can be used by cells(passive) is caused byKearns - Sayre syndrome
A defect in the enzyme HGPRTcausesLesch - Nyhan syndrome
a maternally - inherited(passive) is caused byMERRF syndrome
a disorder in the metabolism of bilirubin , the chemical that causes jaundice(passive) is caused byCrigler - Najjar syndrome
a gene mutation that leads to overproduction of uric acid in the body(passive) is caused byLesch - Nyhan Syndrome
hemizygous mutations in an autosomal non - imprinted gene(passive) is caused bySotos syndrome
oligaemia leading to and second andcausingoligaemia leading to and second and
a person to lose full function of their heart , eye , and muscle movementscausesa person to lose full function of their heart , eye , and muscle movements
problems with sight and hearingcausesproblems with sight and hearing
problems with sightcausesproblems with sight
an excess of uric acid in the bodycausesan excess of uric acid in the body
overproduction of uric acidcauseoverproduction of uric acid
to deafnesscan leadto deafness
compulsive self - mutilationcausescompulsive self - mutilation
severe nerve pain stemming from my lower back down both legscausedsevere nerve pain stemming from my lower back down both legs
cerebral palsycausescerebral palsy
very distinct facial featurescausesvery distinct facial features
people to bite themselvesmay causepeople to bite themselves
an excess of uric acid in the body , resulting in kidney and bladder stones , and gouty arthritiscausesan excess of uric acid in the body , resulting in kidney and bladder stones , and gouty arthritis
jaundicecausesjaundice
the pituitary gland to not produce enough pituitary hormones ( hypopituitarismcausesthe pituitary gland to not produce enough pituitary hormones ( hypopituitarism
to childhood gout or adenosine phosphoribosyltransferase deficiencyleadingto childhood gout or adenosine phosphoribosyltransferase deficiency
pigment to build up behind the eye and comes with a horrible bonus of heart diseasecausespigment to build up behind the eye and comes with a horrible bonus of heart disease
seizures and kidney failurecausedseizures and kidney failure
the permanent underproduction of essential pituitary hormones ( hypopituitarismcausesthe permanent underproduction of essential pituitary hormones ( hypopituitarism
liver disease such as cirrhosis ( chronic liver damage ) or hepatomegaly ( swollen liveralso causesliver disease such as cirrhosis ( chronic liver damage ) or hepatomegaly ( swollen liver
unconjugated hyperbilirubinemiacausesunconjugated hyperbilirubinemia
chronic anemia , and anemia(passive) caused bychronic anemia , and anemia
droopy upper eyelidscausesdroopy upper eyelids
anemia(passive) caused byanemia
grow retardationcausesgrow retardation
to leukemiacan leadto leukemia
to leukemialedto leukemia
to acute myeloid leukemialeadingto acute myeloid leukemia
usuallycausesusually
in gigantism , intellectual and motor disabilities ... hearing loss , blindness , and severe scoliosisresultsin gigantism , intellectual and motor disabilities ... hearing loss , blindness , and severe scoliosis
kernicterus , which must be treatedcan causekernicterus , which must be treated
Spencer to havehas causedSpencer to have
neutropeniacan causeneutropenia
Neutropenia(passive) caused byNeutropenia
to misunderstandings about their diseasemay leadto misunderstandings about their disease
from a hereditary deficiency of the UDPG - transferase enzymeresultsfrom a hereditary deficiency of the UDPG - transferase enzyme
cells to be irregular shapescausescells to be irregular shapes
overgrowth and developmental disordercausesovergrowth and developmental disorder
to acute myeloid leukemia ( AMLleadto acute myeloid leukemia ( AML
him to have distinctive facial features and learning disabilitiescausedhim to have distinctive facial features and learning disabilities