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