Joubert syndrome 4

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS4
Number of Symptoms 16
OrphanetNr:
OMIM Id: 609583
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
23870701 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Joubert syndrome with renal defect
 -Rare developmental defect during embryogenesis
 -Rare eye disease
 -Rare genetic disease
 -Rare neurologic disease
 -Rare renal disease

Symptom Information: Sort by abundance 

1
 (HPO:0000083) Renal insufficiency 232 / 7739
2
 (HPO:0000090) Nephronophthisis 42 / 7739
3
 (HPO:0000571) Hypometric saccades 10 / 7739
4
 (HPO:0000657) Oculomotor apraxia 54 / 7739
5
 (HPO:0000639) Nystagmus 555 / 7739
6
 (HPO:0000496) Abnormality of eye movement 79 / 7739
7
 (HPO:0001251) Ataxia 413 / 7739
8
 (OMIM) Cognitive impairment, mild 15 / 7739
9
 (OMIM) Impaired balance 3 / 7739
10
 (HPO:0002419) Molar tooth sign on MRI 27 / 7739
11
 (OMIM) Hypotonia, mild 2 / 7739
12
 (OMIM) Head 'tilt' in infancy 1 / 7739
13
 (OMIM) Tubulointerstitial medullary cystic kidney disease 1 / 7739
14
 (OMIM) Long, thickened cerebellar peduncles 1 / 7739
15
 (OMIM) Gross motor delay, mild 1 / 7739
16
 (HPO:0001320) Cerebellar vermis hypoplasia 57 / 7739

Associated genes:

NPHP1;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Parisi et al. (2004) reported 2 sibs with a relatively mild form of Joubert syndrome. One sib had mild gross motor delay, mild cognitive impairment, hypotonia, congenital head tilt, abnormal eye movements consistent with oculomotor apraxia, and nephronophthisis ...
Molecular genetics OMIM In 2 sibs with Joubert syndrome, Parisi et al. (2004) demonstrated homozygous deletion of the NPHP1 gene (607100.0005) identical to that which causes juvenile nephronophthisis (256100). The authors concluded that mutations in the NPHP1 gene are a rare ...