Phenotype #0000171389

Individual ID 00226263
Associated disease ICRD
Phenotype details Athetosis (HP:0002305); Muscular hypotonia of the trunk (HP:0008936); Failure to thrive (HP:0001508); Cerebellar atrophy (HP:0001272); Profound global developmental delay ( HP:0012736); Areflexia (HP:0001284); Strabismus (HP:0000486); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Optic atrophy(HP:0000648); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Ataxia (HP:0001251); Muscular hypotonia (HP:0001252)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite ICRD
Age/Examination 02y (2 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 2019-03-06 10:15:31 +01:00 (CET)
Date last edited 2020-05-07 11:38:57 +02:00 (CEST)