Global Variome shared LOVD

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Phenotype #0000171389 Individual ID 00226263 Associated disease ICRD Phenotype details Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Cerebellar atrophy (HP:0001272); Profound global developmental delay ( HP:0012736); Areflexia (HP:0001284); Strabismus (HP:0000486); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Optic atrophy(HP:0000648); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Ataxia (HP:0001251); Muscular hypotonia (HP:0001252) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite ICRD Age/Examination 02y (2 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 10:15:31 +01:00 (CET) Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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