9q34 deletion syndrome
9q34 deletion syndrome, also known as Kleefstra syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip. Individuals with this disease may often have speech impediments, such as speech delays. Other characteristics of this disease include: epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. From analysis of chromosomal breakpoints, as well as gene sequencing in suggestive cases, Kleefstra and colleagues identified EHMT1 as the causative gene. This gene is responsible for
Wikipage redirect
primaryTopic
9q34 deletion syndrome
9q34 deletion syndrome, also known as Kleefstra syndrome, is a rare genetic disorder. Terminal deletions of chromosome 9q34 have been associated with childhood hypotonia, a distinctive facial appearance and developmental disability. The facial features typically described include arched eyebrows, small head circumference, midface hypoplasia, prominent jaw and a pouting lower lip. Individuals with this disease may often have speech impediments, such as speech delays. Other characteristics of this disease include: epilepsy, congenital and urogenetic defects, microcephaly, corpulence, and psychiatric disorders. From analysis of chromosomal breakpoints, as well as gene sequencing in suggestive cases, Kleefstra and colleagues identified EHMT1 as the causative gene. This gene is responsible for
has abstract
9q34 deletion syndrome, also k ...... is condition in an individual.
@en
Le syndrome de Kleefstra ou de ...... isque augmenté de récurrence .
@fr
Sindrome de pto}} Síndrome de ...... ca, pero este gen está mutado.
@es
ICD10
OMIM id
Link from a Wikipage to an external page
Wikipage page ID
31,873,736
Wikipage revision ID
714,921,257
DiseasesDB
GeneReviewsName
Kleefstra Syndrome
GeneReviewsNBK
hypernym
comment
9q34 deletion syndrome, also k ...... This gene is responsible for
@en
Le syndrome de Kleefstra ou de ...... se fait par mutation de novo.
@fr
Sindrome de pto}} Síndrome de ...... ca, pero este gen está mutado.
@es
label
9q34 deletion syndrome
@en
Sindrome de Kleefstra
@es
Syndrome de Kleefstra
@fr