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

Orpha code: 477673OMIM code: 616281

Definition

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
Classification

Disease

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

No additional description.

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