Phenotype #0000171369

Individual ID 00226242
Associated disease ICRD
Phenotype details Abnormality of the cerebral white matter (HP:0002500); Athetosis (HP:0002305); Intellectual disability (HP:0001249); Ataxia (HP:0001251); Seizures (HP:0001250); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Retinal dystrophy severe (HP:0000556); Cerebellar atrophy (HP:0001272); Hyperreflexia (HP:0001347); Scoliosis (HP:0002650); Profound global developmental delay (HP:0012736)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite IRCD
Age/Examination 13y (13 years)
Age/Diagnosis -
Age/Onset 00y06m
Phenotype/Onset -
Protein -
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-03-05 11:10:57 +01:00 (CET)
Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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