Phenotype #0000171368

Individual ID 00226241
Associated disease ICRD
Phenotype details Athetosis (HP:0002305); Areflexia (HP:0001284); Strabismus (HP:0000486); Optic atrophy (HP:0000648); Failure to thrive (HP:0001508); Seizures (HP:0001250); Ataxia (HP:0001251); Profound global developmental delay (HP:0012736); Vegetative state (HP:0031358)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite IRCD
Age/Examination 18y (18 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 2019-03-05 11:01:41 +01:00 (CET)
Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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