Disorder "Joubert syndrome"
Found 1 record
Disorder information
Disorder name:
Joubert syndrome
Disoder ID:
OMIM entry:
OMIM:617757
,OMIM:617761
,OMIM:617767
,OMIM:617120
,OMIM:614615
,OMIM:614970
,OMIM:612291
,OMIM:614424
,OMIM:616490
,OMIM:616781
,OMIM:614175
,OMIM:614173
,OMIM:616784
,OMIM:617622
,OMIM:616654
,OMIM:614464
,OMIM:615636
,OMIM:213300
,OMIM:610688
Synonyms:
cerebelloparenchymal disorder IV, pure Joubert syndrome, Joubert-Boltshauser syndrome, Pure Joubert syndrome, JBTS, classic Joubert syndrome, Joubert syndrome, Joubert syndrome type A, Classic Joubert syndrome, Cerebelloparenchymal disorder IV, CPD IV
Definition:
A ciliopathy that is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| AHI1 | AHI1:c.2488C>T(p.Arg830Trp) | Expressivity | Altered severity | Significantly higher frequency than in healthy control subjects (P<0.001) and in patients with nphp1 mutations without neurologic symptoms (P<0.002) | Epistatic effects that are provided by heterozygous NPHP6 and AHI1 mutations and variants may contribute to the appearance of extrarenal symptoms in patients with NPHP1 mutations.more | more |
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