Phenotype #0000171389
| 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 |
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