Global Variome shared LOVD

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Phenotype #0000053526 Individual ID 00017614 Associated disease NBIA1 Phenotype details born at term of uneventful pregnancy;1y Normal psychomotor development; walking delayed as a result of instability and toe walking; 3y: spastic tetraparesis; moderate mental and language impairment; Disease was progressive, worsening of motor signs in lower limbs; progressive involvement of upper limbs and oro-mandibular region;15y:No independent ambulation; 17y: mild oro-mandibular dystonia with dysarthria; spastic-dystonic tetraparesis with prevalent involvement of lower limbs; parkinsonian features (rigidity and abnormal postural reflexes); Distal amyotrophia; areflexia with pes cavus; Severe cognitive impairment (total IQ < 40); Obsessive-compulsive behavior; complex motor tics; 19y-unchanged neurological picture; Motor axonal neuropathy more prominent in the lower limbs Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 20y (20 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Marianne Vos (LOVD-team) Database submission license No license selected Created by Johan den Dunnen Date created 2016-06-19 16:50:51 +02:00 (CEST) Date last edited N/A

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