Phenotype #0000171385

Individual ID 00226259
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); Profound global developmental delay (HP:0012736); Sensorineural hearing impairment (HP:0000407); Areflexia (HP:0001284); Hyporeflexia/Reduced tendon reflexes( HP:0001315); Strabismus (HP:0000486); Nystagmus (HP:0000639); Retinal dystrophy (HP:0000556); Ataxia (HP:0001251); Muscular hypotonia (HP:0001252); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Intellectual disability (HP:0001249); Sensorineural hearing impairment (HP:0000407); Aplasia/Hypoplasia of the cerebellum(HP:0007360); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite ICRD
Age/Examination 03y (3 years)
Age/Diagnosis -
Age/Onset 00y04m
Phenotype/Onset -
Protein -
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-03-06 09:40:48 +01:00 (CET)
Date last edited 2020-05-07 11:38:57 +02:00 (CEST)