Disease #00567 (JBTS4 (Joubert syndrome, type 4 (JBTS-4)), OMIM:609583)

Official abbreviation JBTS4
Name Joubert syndrome, type 4 (JBTS-4)
OMIM ID 609583
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 9
Phenotype entries for this disease 9
Associated with 1 gene NPHP1
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

9 entries on 1 page. Showing entries 1 - 9.
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00418776 K76-1 PubMed: Parisi 2004 - F - - - - - - - JBTS4 nephronophthisis: present; age at end-stage renal disease: 10y; no retinal dystrophy; oculomotor apraxia: present; molar tooth sign: present (mild); developmental delay NPHP1 NPHP1 1 1 LOVD
00418777 K76-2 PubMed: Parisi 2004 - F - - - - - - - JBTS4 nephronophthisis: absent; no retinal dystrophy; oculomotor apraxia: present; molar tooth sign: not examined; developmental delay NPHP1 NPHP1 1 1 LOVD
00418778 K84-1 PubMed: Parisi 2004 - M - - - - - - - JBTS4 nephronophthisis: present; age at end-stage renal disease: 9y; no retinal dystrophy; oculomotor apraxia: absent; molar tooth sign: present (mild); developmental delay NPHP1 NPHP1 1 1 LOVD
00418779 K89-1 PubMed: Parisi 2004 - M - - - - - - - JBTS4 nephronophthisis: present; age at end-stage renal disease: 12y; no retinal dystrophy; oculomotor apraxia: absent; molar tooth sign: absent; developmental delay NPHP1 NPHP1 2 1 LOVD
00418781 ? PubMed: Castori 2005 - F no - Italian - - - - JBTS4 no breathing abnormalities reported during the perinatal period; no gross dysmorphisms; able to sit unassisted at the age of 12m, to pronounce simple words at 16m; to walk at 20m; 3y neurological evaluation: hypotonia, mild psychomotor delay, oculomotor apraxia, and ataxic gait; brain magnetic resonance imaging: molar tooth sign with cerebellar vermis hypoplasia, narrowing of the isthmus and elongation of the superior cerebellar peduncles; first year of life: patient developed mild polyuria; urine analysis: low specific gravity (1006) in the absence of sediment abnormalities or proteinuria; renal ultrasonography and serum creatinine levels: (0.4 mg/ dl) normal; maximal urine osmolarity after water restriction: low (579 mOsm/kg/H2O2; normal values .800 mOsm/kg/H2O2), indicating a reduced urinary concentrating ability; renal biopsy not performed; ophthalmologic assessment: severe visual impairment and retinal pigmentary changes; electroretinogram: significantly delayed and attenuated mainly in its photopic component with present flash visual evoked potentials; liver function tests, a liver ultrasound scan, and a standard karyotype: normal NPHP1 NPHP1 1 1 LOVD
00418782 13 PubMed: Caridi 2006 - F - Italy Italian - - - - JBTS4 end-stage renal disease: 9y; HD/TX: yes/yes; urine osmolality: low; kidney size: small/hyperechoic NPHP1 NPHP1 2 1 LOVD
00418783 14 PubMed: Caridi 2006 - M - Italy Italian - - - - JBTS4 end-stage renal disease: creatinine 3 mg%; HD/TX: no/no; urine osmolality: low; kidney size: small/hyperechoic NPHP1 NPHP1 2 1 LOVD
00418784 - PubMed: Caridi 2006 - F - Italy Italian - - - - JBTS4 end-stage renal disease: 14y; HD/TX: yes/yes; urine osmolality: low; kidney size: small/hyperechoic NPHP1 NPHP1 2 1 LOVD
00418785 - PubMed: Caridi 2006 - - - Italy Italian - - - - JBTS4 end-stage renal disease: 12y; HD/TX: yes/yes; urine osmolality: low; kidney size: small/hyperechoic NPHP1 NPHP1 2 1 LOVD
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