Phenotype #0000171369
| Individual ID |
00226242 |
| Associated disease |
ICRD |
| Phenotype details |
Abnormality of the cerebral white matter (HP:0002500); Athetosis (HP:0002305); Intellectual disability (HP:0001249); Ataxia (HP:0001251); Seizures (HP:0001250); Optic atrophy (HP:0000648); Strabismus (HP:0000486); Retinal dystrophy severe (HP:0000556); Cerebellar atrophy (HP:0001272); Hyperreflexia (HP:0001347); Scoliosis (HP:0002650); Profound global developmental delay (HP:0012736) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
IRCD |
| Age/Examination |
13y (13 years) |
| Age/Diagnosis |
- |
| Age/Onset |
00y06m |
| Phenotype/Onset |
- |
| Protein |
- |
| Owner name |
Thomas Foulonneau |
| Database submission license |
No license selected |
| Created by |
Thomas Foulonneau |
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