Disease #00374 (NPHP1 (nephronophthisis, type 1), OMIM:256100)

Official abbreviation NPHP1
Name nephronophthisis, type 1
OMIM ID 256100
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 77
Phenotype entries for this disease 77
Associated with 2 genes NPHP1, TTC21B
Associated tissues -
Disease features -
Remarks -
Date created 2014-05-02 09:58:21 +02:00 (CEST)
Date last edited 2022-01-23 12:29:39 +01:00 (CET)


Individuals

77 entries on 1 page. Showing entries 1 - 77.
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00016538 - PubMed: Bredrup 2011 Brother of patients NPHP II-3, NPHP II-5 and NPHP II-6 M ? Morocco ? - - - - NPHP1 - WDR19 WDR19 2 1 Heleen Arts
00016539 - PubMed: Bredrup 2011 Sister of patients NPHP II-1, NPHP II-5 and NPHP II-6 F ? Morocco ? - - - - NPHP1 - WDR19 WDR19 2 1 Heleen Arts
00016540 - PubMed: Bredrup 2011 Sister of patients NPHP II-1, NPHP II-3 and NPHP II-6 F ? Morocco ? - - - - NPHP1 - WDR19 WDR19 2 1 Heleen Arts
00016541 - PubMed: Bredrup 2011 Sister of patients NPHP II-1, NPHP II-3 and NPHP II-5 F ? Morocco ? - - - - NPHP1 - WDR19 WDR19 2 1 Heleen Arts
00017033 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no France European - - - - ID, NPHP1 severe renal involvement progressing to ESRD <5y; mild intellectual disability, strabismus, hepatic cytolysis, cholestasis CEP83 CEP83 2 1 Marianne Vos (LOVD-team)
00017034 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France European - - - - ID, NPHP1 severe renal involvement progressing to ESRD <5y; speech delay, hydrocephalus; age ESDR 4,5y CEP83 CEP83 2 1 Marianne Vos (LOVD-team)
00017035 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected parents F no - European - - - - ID, NPHP1 - CEP83 CEP83 1 1 Marianne Vos (LOVD-team)
00017036 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M no France European - - - - ID, NPHP1 neurological alterations, including speech delay, intellectual disability, and/or hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus and retinal degeneration, intellectual disability, retinitis, age ESRD 4y CEP83 CEP83 3 1 Marianne Vos (LOVD-team)
00017037 - PubMed: Failler 2014 2-generation family, 2 affected brothers, unaffected heterozygous carrier parents, brothers II1/II2 M no France;Poland European - - - - ID, NPHP1 severe renal involvement progressing to ESRD <5y (II1); high blood pressure CEP83 CEP83 2 2 Marianne Vos (LOVD-team)
00017038 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents M yes (Turkey) Turkish - - - - ID, NPHP1 prominent microcystic tubular dilatations associated with tubular atrophy and interstitial fibrosis, atrophic tubules with thickening of the basement membranes, massive interstitial fibrosis, high blood pressure, hepatic fibrosis CEP83 CEP83 1 1 Marianne Vos (LOVD-team)
00017039 - PubMed: Failler 2014 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - latino - - - - HYDRO, ID, NPHP1 prominent microcystic tubular dilatations associated with tubular atrophy, interstitial fibrosis, neurological alterations, including speech delay, intellectual disability, hydrocephalus supported by cerebral MRI in combination with ophthalmologic defects, strabismus, severe phenotype with ESRD at 1y, hydrocephalus, facial dysmorphism, heart anomaly complicated by triple X syndrome (47, XXX) CEP83 CEP83 2 1 Marianne Vos (LOVD-team)
00017797 - PubMed: Sang 2011 4-generation family, 3 affected sibs, unaffected heterozygous carrier parents - yes Turkey - 02y - - - NPHP1 all affected sibs died at 2y from kidney failure; renal biopsies consistent with nephronophthisis; ons sib suffered from seizures, evidence of cerebral atrophy (imaging) ATXN10 ATXN10 1 3 Johan den Dunnen
00046332 - PubMed: Attanasio 2007; Journal: Attanasio 2007 5-generation family, 3 affecteds (F, 2M), unaffected heterozygous carrier parents - yes Canada Oji-Cree - - - - NPHP1 see paper; end stage kidney disease by 8y, renal transplantation, ... GLIS2 GLIS2 1 3 Johan den Dunnen
00046333 - PubMed: Halbritter 2013; Journal: Halbritter 2013 - - - Turkey - - - - - NPHP1 15y end stage renal disease, no extrarenal manifestations GLIS2 GLIS2 1 1 Johan den Dunnen
00288883 P14 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F ? Oman - 01y - - - NPHP1 Failure to thrive, chronic anaemia, ESRD 1 Y. Renal biopsy: cystic dilation of tubules, glomerulosclerosis and advanced interstitial scarring. Liver biopsy: bile duct proliferation, and hepatic fibrosis. Renal USS: increased echogenicity with loss of corticomedullary differentiation and cortical cysts noted in left kidney NPHP3 NPHP3 1 1 Intisar Al Alawi
00418768 A5234 PubMed: Gheissari 2015 - M - Iran Iranian - - - - NPHP1 ophthalmic signs: refractory disturbances; modality: medical renal replacement therapy; cysts on ultrasound: yes; histopathology: yes NPHP1 NPHP1 1 1 LOVD
00418769 A5237 PubMed: Gheissari 2015 - F - Iran Iranian - - - - NPHP1 ophthalmic signs: refractory disturbances; modality: renal transplantation; cysts on ultrasound: yes; histopathology: no data NPHP1 NPHP1 1 1 LOVD
00418771 Patient 1 PubMed: Betz 2000 family F410, proband M - - - - - - - NPHP1 5y: diagnosed with ocular motor apraxia, confirmed by reexamination at 19y, with strabismus concomitans convergens alternans; visual acuity, 1y: 0.15; 21y right/left eye: 0.4 / 0.5; no fundus abnormalities; 7y: polyuria and polydipsia; 20y: kidney biopsy confirmed the diagnosis of nephronophthisis; serum creatinine: 300 umol/L; creatinine clearance: 33 mL/min/m2, proteinuria 0.8 g/24 h; treated for mild arterial hypertension; no retinitis pigmentosa and optical nerve coloboma NPHP1 NPHP1 1 1 LOVD
00418772 Patient 2 PubMed: Betz 2000 family F232, proband M - - - - - - - NPHP1 1y: diagnosed with ocular motor apraxia; 10y: defect in the production of voluntary saccades and an impairment of horizontal attraction movements with compensatory jerking head movements; strabismus convergens alternans and hyperopia; no other neurologic abnormality; 9y: nephronophthisis: polyuria, polydipsia, anemia (9.2 g/dL), and elevated serum creatinine (159 umol/L).; renal ultrasonography: high echogenicity and small cysts at the corticomedullary junction; 11y: kidney allograft; no retinitis pigmentosa and optical nerve coloboma NPHP1 NPHP1 2 1 LOVD
00418773 ? PubMed: Takano 2002 - M - - - - - - - NPHP1 mild motor developmental delay during his early developmental years; acquired head control at 4m, sitting unassisted at 10m, crawling at 12m, walking unassisted at 18m; development beyond 2y: within the normal range; 11m: diagnosed as having congenital nystagmus and hyperopic astigmatism; 10y: complaints of general fatigue - microscopic hematuria; elevated serum creatinine level at 8.07 mg/dl, and BUN at 150.8 mg/dl, indicating a renal failure state; renal ultrasonography: small cysts at the corticomedullary junction - diagnosis of juvenile nephronophthisis; hemodialysis ; neurologic examination: mild truncal ataxia, dysmetria, tremor, awkwardness of tandem gait, and gaze paretic nystagmus; oculomotor apraxia not found; muscle tone: normal, deep tendon reflex: normal; plantar reflex: flexed, no retinitis pigmentosa or coloboma; intelligence test (WISC-R: Japanese Wechsler Intelligence Scale for Children-Revised): full scale IQ of 87, verbal IQ of 94, and performance IQ of 83; no other neurologic abnormality; magnetic resonance imaging: hypoplasia of the brainstem and vermis, enlargement of the fourth ventricle of which maximum height in the midsagital view was 18.5 mm; measurements of brain structures: t'; (maximum width on the line through the intercolliculus point) and z (width on the line from the right to the left border points between the tegmentum and crus cerebri): shorter than those of normal age matched controls; w'; (maximum width in the middle portion of the pons from the floor of the fourth ventricle to the basis of the pons), u (maximum width between the left most and right most outsides of the cerebral peduncle) and v (width between the left and the right cerebellopontine angles): no NPHP1 NPHP1 1 1 LOVD
00418804 Patient 1 PubMed: Bollee 2006 - M - - - - - - - NPHP1 serum creatinine rate (mmol/l): 261; calculated glomerular filtration rate (ml/min): 29; proteinuria (g/day): 0.4; haematuria: -; blood pressure (mmhg): 150/90; late enuresis: +; polyuria and polydipsia: +; radiological features: kidneys size: normal; cysts: no; extra renal-disorders:retinal dystrophy NPHP1 NPHP1 1 1 LOVD
00418805 Patient 2 PubMed: Bollee 2006 - F - - - - - - - NPHP1 serum creatinine rate (mmol/l): 225; calculated glomerular filtration rate (ml/min): 25; proteinuria (g/day): 0.2; haematuria: -; blood pressure (mmhg): 120/75; late enuresis: -; polyuria and polydipsia: -; radiological features: kidneys size: normal; cysts: 1 cortical (1 cm); extra renal-disorders:no NPHP1 NPHP1 1 1 LOVD
00418806 Patient 3 PubMed: Bollee 2006 sister of patient 4 F - - - - - - - NPHP1 serum creatinine rate (mmol/l): 442; calculated glomerular filtration rate (ml/min): 12; proteinuria (g/day): 0.4; haematuria: -; blood pressure (mmhg): 115/70; late enuresis: +; polyuria and polydipsia: -; radiological features: kidneys size: reduced; cysts: 1 cortical (1 cm); extra renal-disorders:no NPHP1 NPHP1 1 1 LOVD
00418807 Patient 4 PubMed: Bollee 2006 brother of patient 3 M - - - - - - - NPHP1 serum creatinine rate (mmol/l): 419; calculated glomerular filtration rate (ml/min): 16; proteinuria (g/day): 1.6; haematuria: -; blood pressure (mmhg): 130/80; late enuresis: -; polyuria and polydipsia: +; radiological features: kidneys size: normal; cysts: no; extra renal-disorders:retinal dystrophy, neurologic bladder NPHP1 NPHP1 1 1 LOVD
00418813 1_II:2 PubMed: Sellami 2006 Family 1 (article in French) F - - - - - - - NPHP1 age at renal failure: 19y; age at end-stage renal failure: 19y; no retinal dystrophy NPHP1 NPHP1 1 1 LOVD
00418814 1_II:3 PubMed: Sellami 2006 Family 1 (article in French) F - - - - - - - NPHP1 age at renal failure: 11y; age at end-stage renal failure: 11y; no retinal dystrophy NPHP1 NPHP1 1 1 LOVD
00418815 2_V:2 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - NPHP1 age at renal failure: 18y; age at end-stage renal failure: 19y; retinal dystrophy NPHP4 NPHP4 1 1 LOVD
00418816 2_V:6 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - NPHP1 age at renal failure: 20y; age at end-stage renal failure: 21y; no retinal dystrophy NPHP4 NPHP4 1 1 LOVD
00418817 2_V:7 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - NPHP1 age at renal failure: 19y; age at end-stage renal failure: ; no retinal dystrophy NPHP4 NPHP4 1 1 LOVD
00418818 2_V:11 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - NPHP1 age at renal failure: 25y; age at end-stage renal failure: ; retinal dystrophy NPHP4 NPHP4 1 1 LOVD
00418819 2_V:12 PubMed: Sellami 2006 Family 2 (article in French) (article in French) F - - - - - - - NPHP1 age at renal failure: 15y; age at end-stage renal failure: 15y; no retinal dystrophy NPHP4 NPHP4 1 1 LOVD
00418820 2_V:13 PubMed: Sellami 2006 Family 2 (article in French) (article in French) M - - - - - - - NPHP1 age at renal failure: 20y; age at end-stage renal failure: 24y; no retinal dystrophy NPHP4 NPHP4 1 1 LOVD
00418821 F9_II-1 PubMed: Hoefele 2007 family F9, individual II-1 M - Germany - - - - - NPHP1 age at end-stage renal failure: 7y; extrarenal manifestations: no data available NPHP1 NPHP1, NPHP3, NPHP3-ACAD11 2 1 LOVD
00418822 F9_II-2 PubMed: Hoefele 2007 family F9, individual II-2 F - Germany - - - - - NPHP1 age at end-stage renal failure: 11y; extrarenal manifestations: no data available NPHP1 NPHP1, NPHP3, NPHP3-ACAD11 2 1 LOVD
00418823 F194_II-1 PubMed: Hoefele 2007 family F194, individual II-1 M - Germany - - - - - NPHP1 age at end-stage renal failure: 31y; extrarenal manifestations: retinitis pigmentosa NPHP1 NPHP1, NPHP3, NPHP3-ACAD11 2 1 LOVD
00418824 F906_II-2 PubMed: Hoefele 2007 family F906, individual II-2 F - Russia - - - - - NPHP1 age at end-stage renal failure: 13y; extrarenal manifestations: retinitis pigmentosa NPHP1 NPHP1, NPHP3, NPHP3-ACAD11 2 1 LOVD
00418825 F1114_II-1 PubMed: Hoefele 2007 family F1114, individual II-1 M - Hungary - - - - - NPHP1 age at end-stage renal failure: 9y; extrarenal manifestations: retinitis pigmentosa NPHP1 NPHP1, NPHP4 2 1 LOVD
00418826 F1114_II-2 PubMed: Hoefele 2007 family F1114, individual II-2 F - Hungary - - - - - NPHP1 age at end-stage renal failure: 17y; extrarenal manifestations: retinitis pigmentosa NPHP1 NPHP1 1 1 LOVD
00418827 A11_II-1 PubMed: Hoefele 2007 family A11, individual II-1 M - France - - - - - NPHP1 age at end-stage renal failure: 3y; extrarenal manifestations: liver fibrosis NPHP3 NPHP3, NPHP3-ACAD11, NPHP4 3 1 LOVD
00418828 F24_II-1 PubMed: Hoefele 2007 family F24, individual II-1 F - Germany - - - - - NPHP1 extrarenal manifestations: no data available NPHP4 NPHP3, NPHP3-ACAD11, NPHP4 3 1 LOVD
00418829 F24_II-2 PubMed: Hoefele 2007 family F24, individual II-2 F - Germany - - - - - NPHP1 age at end-stage renal failure: 14y; extrarenal manifestations: no data available NPHP4 NPHP4 2 1 LOVD
00418830 F281_II-1 PubMed: Hoefele 2007 family F281, individual II-1 - - Germany - - - - - NPHP1 age at end-stage renal failure: 16y; extrarenal manifestations: retinitis pigmentosa INVS INVS, NPHP3, NPHP3-ACAD11 2 1 LOVD
00418831 F16_II-3 PubMed: Hoefele 2007 family F16, individual II-3 - - France - - - - - NPHP1 age at end-stage renal failure: 11y; extrarenal manifestations: retinitis pigmentosa NPHP3 NPHP3, NPHP3-ACAD11 1 1 LOVD
00418832 F 440_II-2 PubMed: Hoefele 2007 family F 440, individual II-2 - - Austria - - - - - NPHP1 age at end-stage renal failure: 4y; extrarenal manifestations: liver fibrosis, cone shaped epiphysis, retinitis pigmentosa NPHP3 NPHP3, NPHP3-ACAD11 1 1 LOVD
00418833 F 897_II-3 PubMed: Hoefele 2007 family F 897, individual II-3 - - Germany - - - - - NPHP1 age at end-stage renal failure: extrarenal manifestations: cerebellar vermis hypoplasia INVS INVS 1 1 LOVD
00418834 F 700_II-6 PubMed: Hoefele 2007 family F 700, individual II-6 - - Turkey - - - - - NPHP1 age at end-stage renal failure: 10y; extrarenal manifestations: cerebellar vermis hypoplasia NPHP4 NPHP4 1 1 LOVD
00418835 F443_II-1 PubMed: Hoefele 2007 family F443, individual II-1 - - Finland - - - - - NPHP1 age at end-stage renal failure: 22y; extrarenal manifestations: ulcerative colitis INVS INVS 1 1 LOVD
00418836 F443_II-4 PubMed: Hoefele 2007 family F443, individual II-4 - - Finland - - - - - NPHP1 age at end-stage renal failure: 19y; extrarenal manifestations: retinitis pigmentosa INVS INVS 1 1 LOVD
00418837 F390_II-1 PubMed: Hoefele 2007 family F390, individual II-1 - - Turkey - - - - - NPHP1 age at end-stage renal failure: 1y; extrarenal manifestations: liver fibrosis, infantile nephronophthisis INVS INVS 1 1 LOVD
00418838 F 616_II-2 PubMed: Hoefele 2007 family F 616, individual II-2 - - Germany - - - - - NPHP1 age at end-stage renal failure: 14y; extrarenal manifestations: liver fibrosis NPHP4 NPHP4 1 1 LOVD
00418839 F 800_II-1 PubMed: Hoefele 2007 family F 800, individual II-1 - - United States - - - - - NPHP1 extrarenal manifestations: infantile nephronophthisis, ocular motor apraxia, polydactyly NPHP4 NPHP4 1 1 LOVD
00418840 F 244_II-5 PubMed: Hoefele 2007 family F 244, individual II-5 - - Morocco - - - - - NPHP1 age at end-stage renal failure: 1y; extrarenal manifestations: situs inversus, infantile nephronophthisis NPHP4 NPHP4 1 1 LOVD
00418844 A2202 II1 PubMed: Soliman 2012 family A2202, individual II1; 14 more individuals described without homozygous deletion M - Egypt Egyptian - - - - NPHP1 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 2y8m (hemodialysis); cysts on ultrasound: +; histopathologic triad: present; bone age: 2y6m NPHP1 NPHP1 1 1 LOVD
00418845 A2228 II3 PubMed: Soliman 2012 family A2228, individual II3; 14 more individuals described without homozygous deletion F - Egypt Egyptian - - - - NPHP1 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 4; age at developing end-stage renal disease (renal replacement therapy): -; cysts on ultrasound: +; histopathologic triad: not done; bone age: 7y2m NPHP1 NPHP1 1 1 LOVD
00418846 A2325 II1 PubMed: Soliman 2012 family A2325, individual II1; 14 more individuals described without homozygous deletion M - Egypt Egyptian - - - - NPHP1 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 12y (hemodialysis); cysts on ultrasound: +; histopathologic triad: not done; bone age: 8y NPHP1 NPHP1 1 1 LOVD
00418847 A2325 II2 PubMed: Soliman 2012 family A2325, individual II2; 14 more individuals described without homozygous deletion M - Egypt Egyptian - - - - NPHP1 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 4; age at developing end-stage renal disease (renal replacement therapy): 10y10m (renal transplantation); cysts on ultrasound: 0; histopathologic triad: present; bone age: 6y NPHP1 NPHP1 1 1 LOVD
00418848 A2371 II1 PubMed: Soliman 2012 family A2371, individual II1; 14 more individuals described without homozygous deletion M - Egypt Egyptian - - - - NPHP1 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: seizures, ocularnonemotor apraxia, retinitis pigmentosa, mental retardation, molar tooth sign; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 9y (hemodialysis); cysts on ultrasound: 0; histopathologic triad: not done; bone age: 5y6m NPHP1 NPHP1 1 1 LOVD
00418849 A2413 II6 PubMed: Soliman 2012 family A2413, individual II6; 14 more individuals described without homozygous deletion F - Egypt Egyptian - - - - NPHP1 initial presentation: polyuria and polydipsia, anemia, growth retardation; extra-renal manifestations: none; chronic kidney disease stage at diagnosis: 5; age at developing end-stage renal disease (renal replacement therapy): 10y6m (hemodialysis); cysts on ultrasound: +; histopathologic triad: not done; bone age: y NPHP1 NPHP1 1 1 LOVD
00418863 ? PubMed: Gyung Kang 2015 - M - Korea, South (Republic) Korean - - - - NPHP1 age at time of presentation: 7y11m; serum creatinine (mg/dl): 6; haemoglobin (g/dl): 8.1; follow-up data: age at end-stage renal disease (years): 7y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 17y; ophthalmological symptoms: impaired night vision, strabismus; decreased visual acuity: present; age at retinopathy (years): 17y; loss of central vision: absent; ophthalmological examination: retinal degeneration NPHP1 NPHP1 1 1 LOVD
00418864 ? PubMed: Gyung Kang 2015 - M - Korea, South (Republic) Korean - - - - NPHP1 age at time of presentation: 15y5m; serum creatinine (mg/dl): 2.4; haemoglobin (g/dl): 10.2; follow-up data: age at end-stage renal disease (years): 18y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 20y6m; ophthalmological symptoms: impaired visual acuity; decreased visual acuity: present; age at retinopathy (years): 22y6m; loss of central vision: present; ophthalmological examination: small parafoveal flecks, maculopathy NPHP1 NPHP1 1 1 LOVD
00418865 ? PubMed: Gyung Kang 2015 - F - Korea, South (Republic) Korean - - - - NPHP1 age at time of presentation: 12y11m; serum creatinine (mg/dl): 20.3; haemoglobin (g/dl): 3.8; follow-up data: age at end-stage renal disease (years): 12y11m; ophthalmological findings: kidney transplantation; age at symptom onset (years): 8y; ophthalmological symptoms: nystagmus, amblyopia; decreased visual acuity: present; age at retinopathy (years): 17y6m; loss of central vision: present; ophthalmological examination: fundus parafoveal flecks, maculopathy NPHP1 NPHP1 1 1 LOVD
00418866 ? PubMed: Gyung Kang 2015 - M - Korea, South (Republic) Korean - - - - NPHP1 age at time of presentation: 10y6m; serum creatinine (mg/dl): 2.1; haemoglobin (g/dl): 9.7; follow-up data: age at end-stage renal disease (years): 11y1m; ophthalmological findings: peritoneal dialysis; age at symptom onset (years): 2y; ophthalmological symptoms: high myopia; decreased visual acuity: present; age at retinopathy (years): ; loss of central vision: absent; ophthalmological examination: absent NPHP1 NPHP1 1 1 LOVD
00418867 ? PubMed: Gyung Kang 2015 - M - Korea, South (Republic) Korean - - - - NPHP1 age at time of presentation: 14y; serum creatinine (mg/dl): 16.5; haemoglobin (g/dl): 3.7; follow-up data: age at end-stage renal disease (years): 14y; ophthalmological findings: peritoneal dialysis; age at symptom onset (years): 3y; ophthalmological symptoms: amblyopia, strabismus; decreased visual acuity: present; age at retinopathy (years): 14y5m; loss of central vision: present; ophthalmological examination: fundus parafoveal flecks, maculopathy, choroidal silence NPHP1 NPHP1 1 1 LOVD
00418872 F10 PubMed: Javorszky 2017 family 10 - - - - - - - - NPHP1 - NPHP1 NPHP1 1 1 LOVD
00418873 F12 PubMed: Javorszky 2017 family 12 - - - - - - - - NPHP1 - NPHP1 NPHP1 1 1 LOVD
00418874 F15 PubMed: Javorszky 2017 family 15 - - - - - - - - NPHP1 - NPHP1 NPHP1 1 1 LOVD
00418875 F63 PubMed: Javorszky 2017 family 63 - - - - - - - - NPHP1 - NPHP1 NPHP1 1 1 LOVD
00418876 F67 PubMed: Javorszky 2017 family 67 - - - - - - - - NPHP1 - NPHP1 NPHP1 1 1 LOVD
00418877 F70 PubMed: Javorszky 2017 family 70 - - - - - - - - NPHP1 - NPHP1 NPHP1 1 1 LOVD
00418878 F84 PubMed: Javorszky 2017 family 84 - - - - - - - - NPHP1 - NPHP1 NPHP1 2 1 LOVD
00418879 F97 PubMed: Javorszky 2017 family 97 - - - - - - - - NPHP1 - NPHP1 NPHP1 1 1 LOVD
00418880 F158 PubMed: Javorszky 2017 family 158 - - - - - - - - NPHP1 - NPHP1 NPHP1 1 1 LOVD
00418881 F36 PubMed: Javorszky 2017 family 36 - - - - - - - - NPHP1 - NPHP1 NPHP1 2 1 LOVD
00418882 F38 PubMed: Javorszky 2017 family 38 - - - - - - - - NPHP1 - NPHP1 NPHP1 2 1 LOVD
00418883 F249 PubMed: Javorszky 2017 family 249 - - - - - - - - NPHP1 - NPHP1 NPHP1 2 1 LOVD
00418884 F106 PubMed: Javorszky 2017 family 106 - - - - - - - - NPHP1 - NPHP1 NPHP1 2 1 LOVD
00418885 F203 PubMed: Javorszky 2017 family 203 - - - - - - - - NPHP1 - NPHP1 NPHP1 2 1 LOVD
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