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Summary
JOUBERT SYNDROME 1
JBTS1 JOUBERT-BOLTSHAUSER SYNDROME CEREBELLOPARENCHYMAL DISORDER IV
213300
OMIM = Online Medalian Inheritance of Men
475
9q34.3

Detail information to gene locus by the National Center for Biotechnology Information NCBI:
rare (1:100.000)
autosomal recessive
mutation in the INPP5E gene
symptoms
apnea
ataxia
athetosis
behavior, abnormal or bizarre, confusion
behavior, autism or autistic-like
cerebellar atrophy or hypoplasia
chorioretinal colobomata
cirrhosis or fibrosis of liver
cleft eyelid (coloboma)
dysarthria
early death
eye movements, abnormal
facial nerve palsy
hepatomegaly (large liver)
hypotonia
liver involvement or dysfunction
macroglossia, large/protuding tongue
mental retardation
onset, neonatal
polydactyly
renal cysts
retinal or macular degeneration
seizures
short neck
speech development, delayed, abnormal
strabismus
tachypnea, hyperpnea, dyspnea, respiratory distress
tremor or twitching
laboratory finding
no specific laboratory findings
ultrasound, cranial, abnormalities -
CT, brain, abnormalities -
MRI, brain, abnormalities -
Literature
Qureshi IAet al.Treatment of hyperargininemia with sodium benzoate and arginine-restricted dietJ Pediatr1040473-4761984
Prasad ANet al.Argininemia: a treatable genetic cause of progressive spastic diplegia simulating cerebral palsy: case reports and literature reviewJ Child Neurol120301-3091997
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Kattner ESch+├▒fer A, Harzer KHydrops fetalis: manifestation in lysosomal storage diseases including Fraber diseaseEur J Pediatr1560292-2951997
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Prasun P,et al.Expanding the Clinical Spectrum of Mitochondrial Citrate Carrier (SLC25A1) Deficiency: Facial Dysmorphism in Siblings with Epileptic Encephalopathy and Combined D,L-2-Hydroxyglutaric AciduriaJIMD Rep190111-1152015
Brockstedt Met al.A new case of hyperargininaemia: neurological and biochemical findings prior to and during dietary treatmentEur J Pediatr1490341-3431990
Balaji P,et al.An interesting case of metabolic dystonia: L-2 hydroxyglutaric aciduriaAnn Indian Acad Neurol17197-992014
Moser HWSmoth KD, Moser ABX-linked adrenoleukodystrophyThe metabolic and molecular bases of inherited disease, 7/e Editors: C.R.Scriver, A.L.Beaudet, W.S.Sly, D.Valle McGraw-Hill Inc.2722325-23491995
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Vassault ABonnefort JP, Specola N, Saudubray LMLactate, Pyruvate, and Ketone BodiesTechniques in diagnostic human biochemical genetics: a laboratory manual Editor F.A.HommesWiley-Liss Inc. New York00285-3081991
Harrington JWStiefel M, Gianos EArginase deficiency presenting with cerebral oedema and failure to thriveJ Inher Met Dis230517-5182000