Global Variome shared LOVD

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Phenotype #0000171388 Individual ID 00226262 Associated disease ICRD Phenotype details Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Seizures (HP:0001250); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hyporeflexia/Reduced tendon reflexes (HP:0001315); Profound global developmental delay ( HP:0012736); Retinal dystrophy (HP:0000556); Nystagmus (HP:0000639); Ataxia (HP:0001251); Muscular hypotonia(HP:0001252); Optic atrophy (HP:0000648); No eye contact (HP:0000817) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite ICRD Age/Examination 08y (8 years) Age/Diagnosis - Age/Onset 00y05m Phenotype/Onset - Protein - Owner name Thomas Foulonneau Database submission license No license selected Created by Thomas Foulonneau Date created 2019-03-06 10:08:57 +01:00 (CET) Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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