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Items: 3

1.

Constitutional megaloblastic anemia with severe neurologic disease

Dihydrofolate reductase deficiency is an autosomal recessive metabolic disorder characterized by the hematologic findings of megaloblastic anemia and variable neurologic symptoms, ranging from severe developmental delay and generalized seizures in infancy (Banka et al., 2011) to childhood absence epilepsy with learning difficulties to lack of symptoms (Cario et al., 2011). Treatment with folinic acid can ameliorate some of the symptoms. [from OMIM]

MedGen UID:
462555
Concept ID:
C3151205
Disease or Syndrome
2.

Intellectual developmental disorder 60 with seizures

Autosomal dominant intellectual developmental disorder-60 with seizures is characterized by global developmental delay apparent in infancy, followed by onset of seizures in the first years of life. Patients have delayed walking, an ataxic gait, and moderately to severely impaired intellectual development with poor speech (summary by Helbig et al., 2019). [from OMIM]

MedGen UID:
1684702
Concept ID:
C5231497
Disease or Syndrome
3.

Absence seizure with eyelid myoclonia

An absence with eyelid myoclonia seizure is a type of generalized non-motor (absence) seizure characterized by forced upward jerking of the eyelids during an absence seizure. [from HPO]

MedGen UID:
581541
Concept ID:
C0393722
Disease or Syndrome
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