Global Variome shared LOVD

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Phenotype #0000310187 Individual ID 00418889 Associated disease SLSN Phenotype details pregnancy and delivery: uneventful; diagnosis: dysmorphic face (high eyebrow, anteverted nostrils), abdominal ballooning, anemia, growth retardation (-2DS), polyuria and polydipsia; weight: 25 Kg, length: 130 cm, blood pressure: normal (100/60 mmHg); urine analysis: no proteinuria, absence of microscopic hematuria and urinary tract infection; blood urea level: 8.55 mmol/L, serum creatinine at diagnosis: 138 umol/L, blood sodium level: 125 mmol/L; because of the high rate of urea, ultrasound image: a small kidney size with hyperechogenicity, no cyst; ophthalmological examination, pulmonary examination, osteoarticular status, liver function, and psychomotor development: normal; renal biopsy: not performed because of kidney size and child's age; no extrarenal involvement; retinitis pigmentosa/retinal dystrophy, oculomotor apraxia, nystagmus, ocular coloboma, posterior encephalocele, respiratory or pulmonary involvement, cerebellar vascularization aplasia/hypoplasia, hepatic fibrosis, postaxial polydaceletal dysplasia, situs inversus/cardiac Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite Senior-Loken syndrome Age/Examination 06y (6 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 2022-10-10 20:55:31 +02:00 (CEST) Date last edited 2022-10-10 20:57:49 +02:00 (CEST)

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