Phenotype #0000171385
| 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 |
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