Phenotype #0000301082

Individual ID	00408964
Associated disease	JBTS
Phenotype details	56y: progressive decline in estimated glomerular filtration rate (eGFR) over the previous 5 years; ultrasound: increased echogenicity of the kidneys, loss of corticomedullary differentiation and multiple, bilateral small cortical cysts history of moderate learning difficulties and retinal dystrophy, shallow and fast breathing pattern in early infancy, no episodes of apnoea, nystagmus was also noted in infancy, cerebral palsy was thought to be the cause of her failure to meet early developmental milestones; slow progress at a special needs school; visual impairment identified in her late 20s; 32y: diagnosis of retinal dystrophy (rod-cone dystrophy); surgery for bilateral cataracts in her 40s;magnetic resonance: classical molar tooth sign; 58y: hospital haemodialysis when S creatinine had reached 490 mmol/L; awaiting a renal transplant
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	61y (61 years)
Age/Diagnosis	-
Age/Onset	51y
Phenotype/Onset	decline in renal function
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-29 10:18:19 +02:00 (CEST)
Date last edited	N/A