/congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome

Rare Disease

MONDO:0014258

Also Known As

asparagine synthetase deficiencycongenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndromeASNSDAsns deficiency

Comprehensive, easy-to-understand information about this condition

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Gene data from MyGene.info • Click to view on NCBI Gene

Neu-Laxova syndrome

MONDO:0000179

thiopurine metabolic disease

MONDO:0000210

hypercalcemia, infantile

MONDO:0000212

hypermanganesemia with dystonia

MONDO:0000214

inclusion body myopathy with Paget disease of bone and frontotemporal dementia

MONDO:0000507

syndromic intellectual disability

MONDO:0000508