Phenotype #0000310077

Individual ID	00418781
Associated disease	JBTS4
Phenotype details	no breathing abnormalities reported during the perinatal period; no gross dysmorphisms; able to sit unassisted at the age of 12m, to pronounce simple words at 16m; to walk at 20m; 3y neurological evaluation: hypotonia, mild psychomotor delay, oculomotor apraxia, and ataxic gait; brain magnetic resonance imaging: molar tooth sign with cerebellar vermis hypoplasia, narrowing of the isthmus and elongation of the superior cerebellar peduncles; first year of life: patient developed mild polyuria; urine analysis: low specific gravity (1006) in the absence of sediment abnormalities or proteinuria; renal ultrasonography and serum creatinine levels: (0.4 mg/ dl) normal; maximal urine osmolarity after water restriction: low (579 mOsm/kg/H2O2; normal values .800 mOsm/kg/H2O2), indicating a reduced urinary concentrating ability; renal biopsy not performed; ophthalmologic assessment: severe visual impairment and retinal pigmentary changes; electroretinogram: significantly delayed and attenuated mainly in its photopic component with present flash visual evoked potentials; liver function tests, a liver ultrasound scan, and a standard karyotype: normal
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-06 15:14:16 +02:00 (CEST)
Date last edited	N/A