Phenotype #0000310169

Individual ID	00418871
Associated disease	JBTS
Phenotype details	born after normal pregnancies at term with normal birth weights and Apgar score; first assessment, age 7.5 months growth measurements: within normal limits; severe hypotonia; fine and gross motor development: delayed; functioning at 4-6 months of development; coherence tomography (CT) scan of the head: an area of low density anterior to the left frontal horn; no comments made on the cerebellum, which is not adequately imaged with CT; magnetic resonance imaging: not obtained; 9m: eye examination: either eye would fixate and follow with the opposite eye occluded; same eye movement disorder as seen in the younger brother (records not available); 1y2m: examined by an ophthalmologist diagnosed with ocular motor apraxia without strabismus; eye movement disorder: milder, able to fix and follow; he would only occasionally head thrust; remainder of eye examination: normal; cycloplegic refraction:+2.50 both eyes; head circumference: 98th centile; weight: 95th centile; height, 75th centile; karyotype, plasma amino acids, urine organic acids, electrolytes, haemoglobin, white cell count, long chain fatty acids, plasma carnitine, plasma lactate, and serum creatinine kinase: normal; congenital multicystic kidney: removed at age 1 year; 9y: presented with weight loss, lethargy, and mild renal failure; juvenile nephronophthisis diagnosed with kidney biopsy; mild cerebellar symptoms, using a wheelchair outside home and school; older brother; full-field electroretinogram 11y: panretinal dysfunction affecting cone-driven responses, photopic b-wave amplitude reductions more pronounced - amplitude reductions in the pure rod b-wave and in both the mixed a- and b-waves; confirmed 2 years later; no complaints of nyctalopia or photophobia; Ishihara colour plate testing: normal; magnetic resonance imaging of the brain in adulthood: molar tooth deformity (cerebellar vermis hypoplasia and thinned superior cerebellar peduncles) in keeping with Joubert syndrome
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	-
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-10-10 11:03:16 +02:00 (CEST)
Date last edited	N/A