Phenotypes for disease #00285

4 entries on 1 page. Showing entries 1 - 4.
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AscendingPhenotype ID     

Phenotype details     

Diagnosis/Initial     

Diagnosis/Definite     

Inheritance     

Age/Examination     

Age/Diagnosis     

Age/Onset     

Phenotype/Onset     

Protein     

Owner     

Individual ID     
0000068502 - - - Familial, autosomal recessive >12y - - - - Saskia Wortmann-Hagemann 00089108
0000127226 see paper; ..., microcephaly, Delayed myelination, brain atrophy, spastic quadriplegis, dyskinesia - - Isolated (sporadic) - - 00y03m - - Mitsuko Nakashima 00154492
0000127227 see paper; ..., microcephaly, brain atrophy, cortical blindness, spastic quadriplegia, athetoid movement - - Isolated (sporadic) - - 00y03m - - Mitsuko Nakashima 00154493
0000127228 see paper; ..., dyskinesia; myoclonic seizure, tonic seizure, febrile status epilepticus, complex focal seizures evoked by visual pattern; - - Isolated (sporadic) 09y - 01y03m - - Mitsuko Nakashima 00154494
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