Phenotype #0000310069
| Individual ID |
00418773 |
| Associated disease |
NPHP1 |
| Phenotype details |
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 |
| Diagnosis/Initial |
- |
| Inheritance |
Isolated (sporadic) |
| Diagnosis/Definite |
nephronophthisis with ocular motor apraxia type Cogan |
| Age/Examination |
11y (11 years) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
LOVD |
| Database submission license |
Creative Commons Attribution 4.0 International |
| Created by |
Anna Tracewska |
| Date created |
2022-10-06 13:29:13 +02:00 (CEST) |
| Date last edited |
N/A |
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