Overexpression of KLC2 due to a homozygous deletion in the non - coding regioncausesSPOAN syndrome
by herpes zoster infection(passive) caused byhunt syndrome
An inflammatory process of unknown etiologycausesTolosa - Hunt syndrome
a defect in his DNAcausesHunter?s syndrome
mutations in the HPRT1 gene(passive) is caused byLesch Nyhan syndrome
changes ( mutations ) in the HPRT1 gene(passive) is caused byLesch Nyhan syndrome
his DNAcausesHunter?s 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
2004 ) Mutations in a member of the ras superfamily of small GTP?binding proteinscausesBardet?Biedl syndrome
a defect in the heart(passive) is caused byEisenmenger syndrome
by a defect in the heart(passive) is caused byEisenmenger syndrome
by a defect in the heart(passive) is causedEisenmenger syndrome
Also , haploinsufficiency in the FGF3 gene is thoughtto causeotodental syndrome
deficiency of(passive) is caused byLesch Nyhan syndrome
Genetic deficiency of HPRTcausesLesch - Nyhan syndrome
by variants in the KCNJ2 gene(passive) is caused byAndersen?Tawil syndrome
Novel nonsense mutation in the hypoxanthine guanine phosphoribosyltransferase gene and nonrandom X - inactivationcausingLesch - Nyhan syndrome
the genescausingLesch - Nyhan Syndrome
mutations in the gene HPRT1(passive) is caused byLesch - Nyhan syndrome
A defect in the enzyme HGPRTcausesLesch - Nyhan syndrome
a gene mutation that leads to overproduction of uric acid in the body(passive) is caused byLesch - Nyhan Syndrome
A Kir3.4 mutationcausesAndersen?Tawil syndrome
by a large ventricular septum defect(passive) caused byEisenmenger syndrome
Any heart defect that leads to the development of PAHcan causeEisenmenger syndrome
by a defect in one of the visual pathways that carries messages from the eye to the brain(passive) to be caused byIrlen Syndrome
a defect in one of the visual pathways that carries messages from the eye to the brain(passive) to be caused byIrlen Syndrome
a maternally - inherited mutation at position 8344 in the mitochondrial genome(passive) is caused byMERRF syndrome
brain malformations , perinatal asphyxia , severe head injury , central nervous system infection and inherited degenerative or metabolic conditions(passive) can be caused byGastaut syndrome
by a deletion on chromosome 22q11.2(passive) caused byVelocardiofacial syndrome
irlen a defect in one of the visual pathways that carries messages from the eye to sheet the brain(passive) to be caused byIrlen Syndrome
by Paroxysmal Nocturnal Hemoglobinuria(passive) caused by Moyamoya Syndrome
by Paroxysmal Nocturnal Hemoglobinuria(passive) Caused byMoyamoya Syndrome
a deficiency in hypoxanthine - guanine phosphoribosyltransferase or HGPRT , the enzyme that catalyzes the reversible reaction of producing guanine from GMP(passive) is caused byNyhan syndrome
further vision loss anytime from birth during their lifecan causefurther vision loss anytime from birth during their life
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
to childhood gout or adenosine phosphoribosyltransferase deficiencyleadingto childhood gout or adenosine phosphoribosyltransferase deficiency
fatiguemay causefatigue
like thatto paintlike that
to irritation dryness in the eyes as well as the mouth and noseleadsto irritation dryness in the eyes as well as the mouth and nose
problems(passive) caused byproblems
problems with depth perceptionCan ... causeproblems with depth perception
reading problem(passive) caused byreading problem
the life challenges(passive) caused bythe life challenges