Global Variome shared LOVD

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Phenotype #0000171387 Individual ID 00226261 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); Ataxia (HP:0001251); Profound global developmental delay (HP:0012736); Areflexia (HP:0001284); No eye contact (HP:0000817); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Optic atrophy (HP:0000648); ); Hypoplasia of the corpus callosum (HP:0002079) Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite IRCD Age/Examination 09y (9 years) Age/Diagnosis - Age/Onset 00y03m Phenotype/Onset - Protein - Owner name Thomas Foulonneau Database submission license No license selected Created by Thomas Foulonneau Date created 2019-03-06 10:02:19 +01:00 (CET) Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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