Presentation
[…] callosum-progressive postnatal microcephaly syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Neonatal, Infancy ICD-10: Q02 OMIM: 616657 UMLS: - MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented [orpha.net]
Neurologic
- Quadriplegia
ORPHA:447997 Classification level: Disorder Synonym(s): ASCT1 deficiency Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Neonatal, Infancy [orpha.net]
- Spastic Quadriplegia
ORPHA:447997 Classification level: Disorder Synonym(s): ASCT1 deficiency Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Prevalence: <1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Neonatal, Infancy [orpha.net]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]