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) |