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) |