Phenotype #0000310186

Individual ID	00418888
Associated disease	SLSN
Phenotype details	consanguineous parents; only sibling left alive, two other children deceased because of a congenital heart defect (CHD) and meningitis; pregnancy and delivery: uneventful; early signs and symptoms: growth retardation (size -3DS), 12y: polyuria and polydipsia; clinical examination: normal blood pressure (110/60 mmHg), weight: 31 kg, length 145 cm; ophthalmological examination: reduced visual acuity; pulmonary examination, osteoarticular status, liver function, and psychomotor development: normal; biochemical analysis: absence of proteinuria, of microscopic hematuria and urinary tract infection; blood urea level: 9.9 mmol/L and serum creatinine at diagnosis: 151.42 umol/L, blood sodium level: abnormally low (120 mmol/L; possibility of renal involvement, confirmed by renal ultrasonography, which displayed a reduced kidney size with hyperechogenicity, loss of corticomedullary differentiation and with absence of cysts; renal biopsy: not performed because of kidney size and children's age; no extrarenal inv; retinitis pigmentosa/retinal dystrophy, oculomotor apraxia, nystagmus, ocular coloboma, posterior encephalocele, respiratory or pulmonary involvement, cerebellar vascularization aplasia/hypoplasia, hepatic fibrosis, postaxial polydactyly, skeletal dysplasia, situs inversus/cardiac
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Senior-Loken syndrome
Age/Examination	13y (13 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-10 20:55:31 +02:00 (CEST)
Date last edited	2022-10-10 20:56:53 +02:00 (CEST)