Phenotype #0000359919
| Individual ID |
00475205 |
| Associated disease |
? |
| Diagnosis/Initial |
hypomyelinating leukodystrophy, epileptic encephalopathy |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., 1d-deceased; birth respiratory distress, intubation, cardiac arrest; failure to thrive; 1d-feeding difficulties; no spasticity; axial hypotonia; no dystonia; no opisthotonos; no spastic tetraparesis; no myoclonus; limb contractures; no Parkinsonism; no chorea; no tremor; no dyskinetic movements; known bone dysplasia; no hip dislocation; no scoliosis; no autonomic issues; no irritability; no skin abnormalities; hypopigmentation; no ocular albinism; no unexplained rashes; swallowing difficulties; no feeding tube; no liver dysfunction; no inflammatory bowel disease; no anemia; no leukopenia; no thrombocytopenia; no unexplained bleeding episodes; cardiovascular issues; respiratory failure; no pulmonary fibrosis; ?; no nystagmus; no strabismus; no retinal anomalies; no optic atrophy; dysmorphic facial features; no kidney disease; endocrine disorders |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
- |
| Age/Diagnosis |
- |
| Age/Onset |
1d |
| Phenotype/Onset |
- |
| Protein |
- |
| Tumor/MSI |
- |
| Diagnosis/Criteria |
- |
| Owner name |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2026-04-03 18:19:38 +02:00 (CEST) |
| Date last edited |
N/A |
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