Phenotype #0000305222
| Individual ID |
00413241 |
| Associated disease |
EIEE |
| Phenotype details |
Intrauterine growth retardation (HP:0001511); episodes of increased muscle tone (HP:0001276); screaming; opisthotonos (HP:0002179), sometimes with cyanosis (HP:0000961); severe motor delay (HP:0001270); speech delay (HP:0000750); profound intellectual disability (HP:0001249); infantile axial hypotonia (HP:0009062); poor head control (HP:0002421); spastic tetraplegia (HP:0002510); hyperreflexia (HP:0001347); clonus (HP:0002169); occasional opisthotonos (HP:0002179); spontaneous Babinski sign (HP:0003487); no fixation on objects; conjugated eye deviation (HP:0000496); strabismus (HP:0000486); myoclonic seizures (HP:0032794); multifocal and generalized epileptiform discharges (HP:0010841, HP:0011198); pontocerebellar hypoplasia (HP:0012110, HP:0007360); hypoplasia of the cerebellar vermis (HP:0006817); pes equinus (HP:0001762); adducted thumb (HP:0001181);
contractures of the hands (HP:0009473); congenital, generalized hypertrichosis (HP:0004540) |
| Diagnosis/Initial |
- |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Definite |
- |
| Age/Examination |
02y03m (2 years, 3 months) |
| Age/Diagnosis |
- |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Protein |
- |
| Intellectual_dis |
- |
| Owner name |
Frederike Leonie Harms |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Frederike Leonie Harms |
| Date created |
2022-07-13 07:06:37 +02:00 (CEST) |
| Date last edited |
2022-07-13 10:24:26 +02:00 (CEST) |
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