Phenotype #0000179406

Individual ID 00239184
Associated disease -
Phenotype details Seizures (HP:0001250); Ataxia (HP:0001251); Hypotonia (HP:0001290); Hyporeflexia of lower limbs (HP:0002600); Hyporeflexia of upper limbs (HP:0012391); Cerebral atrophy (HP :0002059); Cerebellar atrophy (HP:0001272); Abnormality of the cerebral white matter (HP:0002500); Hearing impairment (HP:0000365); Motor delay (HP:0001270); Nystagmus (HP:0000639)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 00y00m09d (9 days)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein ACO2
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-06-05 13:46:38 +02:00 (CEST)
Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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