Phenotype #0000171371

Individual ID 00226243
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); Areflexia (HP:0001284); Nystagmus(HP:0000639); Optic atrophy (HP:0000648); Hypoplasia of the corpus callosum (HP:0002079); Abnormality of the cerebral white matter (HP:0002500); Aplasia/Hypoplasia of the cerebellum (HP:0007360); Sensorineural hearing loss (HP:0000407)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite ICRD
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset 00y02m
Phenotype/Onset -
Protein -
Owner name Thomas Foulonneau
Database submission license No license selected
Created by Thomas Foulonneau
Date created 2019-03-05 11:20:38 +01:00 (CET)
Date last edited 2020-05-07 11:38:57 +02:00 (CEST)

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