PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0221355|macrocephaly |
| Sentences | 1 |
| PubMedID- 25883547 | Clinically, mlc is characterized by macrocephaly, deterioration of motor functions with ataxia and spasticity, epileptic seizures and mental decline; minor head trauma or common infections can lead to worsening of clinical conditions often with seizures, prolonged unconsciousness and motor deterioration (van der knaap et al., 1995a,b, 1996; singhal et al., 1996; topcu et al., 1998; bugiani et al., 2003). |
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