Global Variome shared LOVD

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Phenotype #0000170745 Individual ID 00225635 Associated disease RDEOA Phenotype details Ataxia (HP:0001251); Seizures (HP:0001250); Dysarthria (HP:0001260); Peripheral neuropathy (HP:0009830); Motor delay (HP:0001270); Short stature (HP:0004322); Bifid uvula (HP:0000193); Submucous cleft palate (HP:0011819); Optic atrophy (HP:0000648); Pigmentary retinopathy(HP:0000580); Blindness (HP:0000618); Delayed speech and language development (HP:0000750); Esotropia (HP:0000565); Nystagmus (HP:0000639); Muscular hypotonia of the trunk (HP:0008936); Appendicular hypertonia Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite ACO2-related disease Age/Examination 18y (18 years) Age/Onset 01y03m Phenotype/Onset - Protein - Owner name Thomas Foulonneau Database submission license No license selected Created by Thomas Foulonneau Date created 2019-02-21 11:49:15 +01:00 (CET) Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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