Disease #05376 (NDMSCA (neurodevelopmental disorder with microcephaly, seizures, cortical atrophy (NDMSCA)), OMIM:617802)

Official abbreviation NDMSCA
Name neurodevelopmental disorder with microcephaly, seizures, cortical atrophy (NDMSCA)
OMIM ID 617802
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene VARS
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

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00361906 - - - - - - - - - - - AGS, NDMSCA Global developmental delay, seizures, spasticity, microcephaly, T2W focal hyperintensities suggestive of calcifications on MRI - RNASEH2C, VARS 3 1 Anju Shukla
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