Gene table: search width pubmed_id = 31495489


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Disease phenotype
Item
in
this
table
Key
references
Gene symbol (chromosome)

protein
All allelic disease phenotypes - locus/disease symbols
Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - (AR)
16.26
31495489
SMPD4 (2q21.1)
Sphingomyelin phosphodiesterase 4, neutral membrane
* Neurodevelopmental disorder with microcephaly, arthrogryposis and structural brain anomalies - NEDMABA