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Items: 4

1.

Alexander disease type I

Alexander disease type I (AxD type I) is an astrogliopathy and the most severe and common form of Alexander disease (AxD; see this term), presenting before the age of 4 and characterized by seizures, megalencephaly and developmental delay with progressive deterioration. [from ORDO]

MedGen UID:
798691
Concept ID:
CN204729
Disease or Syndrome
2.

Deficiency of acid-aminoacid ligase

MedGen UID:
713945
Concept ID:
C1291654
Disease or Syndrome
3.

Neurological test finding

MedGen UID:
614107
Concept ID:
C0438194
Finding
4.

Neurological diagnostic procedure - normal

MedGen UID:
608484
Concept ID:
C0430783
Finding
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