Phenotype #0000301083

Individual ID	00408965
Associated disease	JBTS
Phenotype details	neurological examination: hypotonia, global developmental delay, oculomotor apraxia, bilateral horizontal nystagmus, poor head control and tachypnea improved with age; poor emotional status up to age 7m; unaided sitting 14m with rehabilitation therapy; growth milestones relative delay at 1y; brain magnetic resonance:thickened and elongated superior cerebellar peduncles, deepened interpeduncular fossa and cerebellar vermis aplasia, all resulting in the molar tooth sign appearance and a slightly dilated fourth ventricle; characteristic physical features: frontal bossing, bitemporal narrowing and nasal bridge depression, high arched eyebrows, open mouth, tongue protrusion, profuse salivation and clinodactyly of the fifth finger; no retinal involvement or low vision; abdominal ultrasound and laboratory results, urinary findings, blood urea and creatinine: normal
Diagnosis/Initial	-
Inheritance	Familial, autosomal recessive
Diagnosis/Definite	Joubert syndrome
Age/Examination	1y5m (1 year, 5 months)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	LOVD
Database submission license
Created by	Anna Tracewska
Date created	2022-04-29 10:47:09 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD