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Items: 2

1.

Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis

PI4KA-related disorder is a clinically variable disorder characterized primarily by neurologic dysfunction (limb spasticity, developmental delay, intellectual disability, seizures, ataxia, nystagmus), gastrointestinal manifestations (multiple intestinal atresia, inflammatory bowel disease), and combined immunodeficiency (leukopenia, variable immunoglobulin defects). Age of onset is typically antenatal or in early childhood; individuals can present with any combination of these features. Rare individuals present with later-onset hereditary spastic paraplegia. Brain MRI findings can include hypomyelinating leukodystrophy, cerebellar hypoplasia/atrophy, thin or dysplastic corpus callosum, and/or perisylvian polymicrogyria. [from GeneReviews]

MedGen UID:
899982
Concept ID:
C4225295
Disease or Syndrome
2.

Unilateral wrist flexion contracture

A chronic loss of wrist joint motion on one side only. [from HPO]

MedGen UID:
892557
Concept ID:
C4022898
Finding

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