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Items: 4

1.

Neuroblastoma, susceptibility to, 1

MedGen UID:
412713
Concept ID:
C2749485
Finding
2.

Spinocerebellar ataxia type 21

Spinocerebellar ataxia-21 (SCA21) is an autosomal dominant neurologic disorder characterized by onset in the first decades of life of slowly progressive cerebellar ataxia, which is associated with cognitive impairment in most patients (summary by Delplanque et al., 2014). For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (164400). [from OMIM]

MedGen UID:
375311
Concept ID:
C1843891
Disease or Syndrome
3.

Neurodevelopmental disorder with eye movement abnormalities and ataxia

Neurodevelopmental disorder with eye movement abnormalities and ataxia (NEDEMA) is characterized by global developmental delay apparent from infancy. Affected individuals show delayed walking with an unsteady gait, variably impaired intellectual development, learning disabilities, and speech difficulties. Abnormal eye movements, which are often noted in early childhood, include opsoclonus, nystagmus, and strabismus. Some patients have seizures, which may be refractory (Lu et al., 2022). [from OMIM]

MedGen UID:
1824014
Concept ID:
C5774241
Disease or Syndrome
4.

Opsoclonus

Bursts of large-amplitude multidirectional saccades without intersaccadic interval [from HPO]

MedGen UID:
116616
Concept ID:
C0242567
Disease or Syndrome
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