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) |