Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome

Orpha code: 477673OMIM code: 616281

Definicja

A rare genetic neurological disorder characterized by postnatal microcephaly, hypotonia during infancy followed in most cases by progressive spasticity mainly affecting the lower limbs, and spastic diplegia or paraplegia, intellectual disability, delayed or absent speech, and dysarthria. Seizures and mildly dysmorphic features have been described in some patients.

Disease data
Klasyfikacja

Disease

Kod ORPHA
477673
Kod OMIM
616281
Kod ICD10
G11.4
Kod ICD11
-

No additional description.

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